Phenotypes for disease #00156 (CSS (Coffin-Siris syndrome (CSS)))

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

255 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000000685	-	CSS	brith a term, weight SD 0.5; inguinal hernia bilateral, 3 hypomelanitic maculae.; no hypotonia; birth feeding problems; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); moderate speech delay (HP:0000750); moderate intellectual disability; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); normal eylashes (-HP:0000499); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); small nails 5th only;; ;; inguinal hernia; ventricular septal defect; no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); inguinal hernia (HP:0000023);	Isolated (sporadic)	40y	-	-	-	-	Gijs Santen	00001503
0000000686	-	CSS	brith 34w+1, weight SD -1.8, OFC 27.3 cm; afwijkend ribskelet (vertaling), bifid xyphoid, hypoplastic midface, coarse facial features, low hairlines, horseshoe kidney; seizures onset 5y, low frequency; spherophakia, optic pits, alacrimia, myopia severe -9D (HP:0011003); no hypotonia; birth feeding problems ongoing; multifocal seizures (HP:0031165); abnormal vision (HP:0000504); hearing loss (HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); no wide mouth (-HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156); small nails 5th only; markedly delayed bone age (HP:0003799), no prominent interphalangeal joints (-HP:0006237); no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; pyloric hypertrophy; dextrocardia; kidney abnormality (HP:0000077); corpus callosum agenesis partial (HP:0001388), dysgenesis corpus callosum; severe myopia (HP:0011003);	Isolated (sporadic)	06y	-	-	-	-	Gijs Santen	00001504
0000000687	-	CSS	brith 37w, weight SD -1; Psoriasis, twin brother; myopia severe -18D (HP:0011003); hypotonia; birth feeding problems; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); mild-moderate speech delay (HP:0000750); mild-moderate intellectual disability; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); normal gross motor skills (-HP:0002194); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179), thick upper lip vermillion (HP:0000215); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); partial 5th distal phalanx; no small nails (-HP:0001792); no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, cone shaped epiphyses (HP:0010579), hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274); severe myopia (HP:0011003);	Isolated (sporadic)	10y	-	-	-	-	Gijs Santen	00001505
0000000688	-	CSS	brith 40w, weight SD 1; hypotonia; birth feeding problems ongoing; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; normal behaviour (-HP:0000708); sparse scalp hair (HP:0002209); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); ear abnormality (HP:0000598); hypertrichosis (HP:0000998); pectus excavatum (HP:0000767); small nails 5th only;; ;; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); agenesis corpus callosum (HP:0001274); astigmatism (HP:0000483);	Isolated (sporadic)	05y	-	-	-	-	Gijs Santen	00001506
0000000689	-	CSS	brith 34w, weight SD -0.5; seizures onset 6m, low frequency; hypotonia; birth feeding problems 2y; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); generalized seizures (HP:0002197); delayed growth (HP:00001510); normal vision (-HP:0000504); no hearing loss (-HP:0000365); growth hormone deficiency, cerebral malformations; moderate-severe speech delayed (HP:0000750); moderate intellectual disability; aggressiveness, hyperkinetic, significant short attention span; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); wrinkling skin (HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); hypoplastic 5th distal phalanx; small nails 5th only; markedly delayed bone age (HP:0003799), no prominent interphalangeal joints (-HP:0006237) , prominent distal phalanges, no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); partial agenesis corpus callosum;	Isolated (sporadic)	08y06m	-	-	-	-	Gijs Santen	00001507
0000000690	-	CSS	brith 38w, weight SD -2.5, OFC 30 cm; villous atrophy on intestinal biopsy (7m) with no celiac disease antibodies; MRI-brain TAC reported as normal; myopia 2D (HP:0000545); generalized hypotonia; feeding problems 6m; no eczema (-HP:0000964); no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate intellectual disability; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); wide philtrum (HP:0000289); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); wrinkling skin (HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small nails (-HP:0001792); no delayed bone age (-HP:0003799); prominent distal phalanges;; joint laxity (HP:0001388); villous atrophy; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); myopia (HP:0000545);	Isolated (sporadic)	03y	-	-	-	-	Gijs Santen	00001508
0000000691	-	CSS	brith 40w, weight SD 0.7; Jaw length asymmetry/ prognathia; hypotonia; birth feeding problems brief; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); abnormal EEG (HP:0002353); no growth abnormality (-HP:0001507); normal vision (-HP:0000504); unilateral hearing loss (HP:0000365); moderate speech delay (HP:0000750); low-normal intelligence; ADHD; sparse scalp hair (HP:0002209); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463); wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); no absent 5th distal phalanx; small nails 5th only; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, cone shaped epiphyses (HP:0010579), hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); no recurrent infections (-HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274);	Isolated (sporadic)	15y	-	-	-	-	Gijs Santen	00001509
0000000692	-	CSS	no baby teeth lost by 6y; feeding problems 3y; no seizures (-HP:0001250); moderate speech delay (HP:0000750); mild intellectual disability; difficulties with social cues, loving, happy, some problems with processing; no anteverted nares (-HP:0000463); pectus excavatum (HP:0000767); no small patella (-HP:0003065);;; gastro-esophoegal reflux (HP:0002020); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); MRI brain normal;	Isolated (sporadic)	04y06m	-	-	-	-	Gijs Santen	00001510
0000000693	-	CSS	brith 37w, weight SD -2.5, OFC SD; haemangioma (in sacral area); death from seizures, status epilepticus; myopia severe -10D (HP:0011003); generalized hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); seizures (HP:0001250); delayed growth (HP:00001510); severe speech delay (HP:0000750); severe intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), ear tags (HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); small patella (HP:0003065); brachydactyly (HP:000156); multiple small nails; prominent interphalangeal joints (HP:0006237), prominent distal phalanges;; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); atrial septal defect; no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); corpus callosum agenesis partial (HP:0001388), colpocephaly (HP:0030048), partial agenesis corpus callosum; myopia (HP:0000545);	Isolated (sporadic)	09y09m	-	-	-	-	Gijs Santen	00001511
0000000694	-	CSS	brith 41w, weight SD -1; abnormal EEG; moderate learning disability; obsessions, flapping, fussy eater, difficulties socializing and making friends; brain-MRI mildly delayed myelination; unaffected siblings also have delayed dentition; MRI-brain Mildly delayed myelination. No other abnormality; myopia -5D (HP:0000545); divergent squint right eye; Needed grommets.; moderate speech delay (HP:0000750); moderate intellectual disability; autism spectrum disorder (HP:0000729); no anteverted nares (-HP:0000463); normal philtrum (-HP:0000288); no pectus excavatum (-HP:0000767); no small patella (-HP:0003065); no brachydactyly (-HP:000156);; no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); no agenesis corpus callosum (-HP:0001274); astigmatism (HP:0000483), myopia (HP:0000545); strabismus (HP:0000486)	Isolated (sporadic)	11y10m	-	-	-	-	Gijs Santen	00001512
0000000695	-	CSS	brith 38w, weight SD 1, OFC 35.5 cm; Umbilical hernia delayed puberty, menarche > 18Y, irregular menses; MRI-brain 10y multiple hypointense T1 and hyperintense T2 focal lesions in the peritrigonal regions. Enlarged Virchow-Robin spaces, malformation of left hypocampus); seizures TCG and partial motor; seizures onset 2y; hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); seizures (HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate-severe intellectual disability; agitatiom, fobias, coprolalia responds to Risperidone; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); no absent 5th distal phalanx; small nails 5th only; markedly delayed bone age (HP:0003799), prominent interphalangeal joints (HP:0006237), prominent distal phalanges; no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545);	Isolated (sporadic)	22y	-	-	-	-	Gijs Santen	00001513
0000000696	-	CSS	brith 40w, weight SD 0.5, OFC SD 0; camptodactyly 5th fingers & 2nd-3rd toes, fan-shaped toes arrangement, sandal gap, short 5th metatarsal, - ,fan-shaped toes arrangement, + (very wide), +; social unripeness; 20y-Ca colli uteri (clear cell adenocarcionoma); generalized hypotonia; birth feeding problems 3y; no eczema (-HP:0000964); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); mild speech delay (HP:0000750); borderline intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); normal gross motor skills (-HP:0002194); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); wrinkling skin (HP:0007392); scoliosis (HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); multiple small nails; prominent interphalangeal joints (HP:0006237), prominent distal phalanges; hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); corpus callosum agenesis partial (HP:0001388), colpocephaly (HP:0030048), partial agenesis corpus callosum;	Isolated (sporadic)	20y06m	-	-	-	-	Gijs Santen	00001514
0000000697	-	CSS	brith 40w, weight SD -1.8, OFC 34 cm; advanced paternal age IVF pregnancy; seizures low frequency; generalized hypotonia; birth feeding problems brief; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); febrile seizures (HP:0002373); no hearing loss (-HP:0000365); mild speech delay (HP:0000750); mild intellectual disability; sparse scalp hair (HP:0002209); abnormal eyebrow (HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); no small nails (-HP:0001792); no delayed bone age (-HP:0003799), prominent interphalangeal joints (HP:0006237), prominent distal phalanges, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); no recurrent infections (-HP:0002719); corpus callosum agenesis (HP:0001274); myopia (HP:0000545);	Isolated (sporadic)	06y03m	-	-	-	-	Gijs Santen	00001515
0000000698	-	CSS	brith 40w, weight SD -0.5, OFC SD; self mutilation; MRI-brain hypoplasia of occipital lobes,arachnoid cysts; no eczema (-HP:0000964); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); moderate intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), no anteverted nares (-HP:0000463); short philtrum (HP:0000322), wide philtrum (HP:0000289); no wide mouth (-HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); small nails 5th only; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange;; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); hypermetropia (HP:000540);	Isolated (sporadic)	01y10m	-	-	-	-	Gijs Santen	00001516
0000000699	-	CSS	brith 39w, weight SD 0, OFC SD 2; camptodactyly 5th fingers, single palmar crease right, narrow, short feet, + (right), narrow, short,+,+; 10m first primary tooth; MRI-brain pachygyria (frontal lobes); seizures onset 7y, low frequency; no hypotonia; birth feeding problems 3y; no eczema (-HP:0000964); generalized tonic-clonic seizures (HP:0002069); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); short philtrum (HP:0000322), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); multiple small nails; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange;; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); strabismus (HP:0000486)	Isolated (sporadic)	12y	-	-	-	-	Gijs Santen	00001517
0000000700	-	CSS	brith 41w+4, weight SD 0, OFC SD; Laryngomalacia and fissure,Deep-set eyes,Downslant,Retrognathia,Frontal bossing,Sleeping problems,Short neck,Asphyxia,Fetal finger pads; birth feeding problems 3y; seizures (HP:0001250); speech delayed (HP:0000750); contact problems; anteverted nares (HP:0000463); normal philtrum (-HP:0000288); no pectus excavatum (-HP:0000767); no small patella (-HP:0003065); no brachydactyly (-HP:000156); small nails (HP:0001792);; ;; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); agenesis corpus callosum (HP:0001274), colpocephalie; strabismus (HP:0000486), nystagmus (HP:0000639)	Isolated (sporadic)	03y	-	-	-	-	Gijs Santen	00001518
0000000701	-	CSS	brith 39w+5, weight SD -0.2; Pierre Robin sequence,Microphthalmia,Hypertelorism,Bitemporal narrowing,Asymmetric facies,Short 4th/5th metacarpals hand,Dense aspect metaphysis radius, ulna and femur,Narrow auditory canals,Fetal finger pads,Knee pain,Asymmetric facies,High pain tolerance; tilted papils with surrounding hyperpigmentation, myopia -2.5D (HP:0000545); generalized hypotonia; birth feeding problems 2.5y; no eczema (-HP:0000964); no seizures (-HP:0001250); delayed growth (HP:00001510); severe speech delay (HP:0000750); mild intellectual disability; anxiety (HP:0000739); normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); small nails 5th only; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545); strabismus (HP:0000486)	Isolated (sporadic)	08y09m	-	-	-	-	Gijs Santen	00001519
0000000702	-	CSS	brith 37w, weight SD -0.8; Laryngotracheomalacia,Umbilical hernia,Hyperpigmentation axillae and groins; small teeth; photophobia, dysplastic optic discs; <6m-feeding problems 3y; no seizures (-HP:0001250); severe speech delay (HP:0000750); moderate intellectual disability; repetitive movts, hyperphagia from 5y, very dependent on routine, no sense of danger; no anteverted nares (-HP:0000463); long philtrum (HP:0000343), wide philtrum (HP:0000289); no pectus excavatum (-HP:0000767); no small patella (-HP:0003065); brachydactyly (HP:000156);; hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); MRI brain normal, no agenesis corpus callosum (-HP:0001274);	Isolated (sporadic)	06y07m	-	-	-	-	Gijs Santen	00001520
0000000703	-	CSS	brith 40w, weight SD -1.9; Cryptorchidism,Hernia umbilicus; MRI-brain delayed myelinisation; no hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); normal vision (-HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; anger outbursts; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); no hypertrichosis (-HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); absent 5th distal phalanx; multiple small nails (incl. 5th);; ; hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274);	Isolated (sporadic)	11y	-	-	-	-	Gijs Santen	00001521
0000000704	-	CSS	brith 37w, weight SD 1, OFC 54 cm; Light skin, inquinal hernia (on right side), Umbilical hernia, Pes planus, Short neck; myopia -2.5D (HP:0000545); hypotonia; <6m-feeding problems brief; eczema (HP:0000964); no cutis marmorata (-HP:0000965); abnormal EEG (HP:0002353); no growth abnormality (-HP:0001507); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); moderate intellectual disability; asocial, troubles in contacts with his peers, aggression; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); no absent 5th distal phalanx; no small nails (-HP:0001792); no delayed bone age (-HP:0003799), prominent interphalangeal joints (HP:0006237), prominent distal phalanges, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); agenesis corpus callosum (HP:0001274); myopia (HP:0000545);	Isolated (sporadic)	06y08m	-	-	-	-	Gijs Santen	00001522
0000000705	-	CSS	brith 39w/40w, weight SD 0; Also carrier for DMD (detected on array persistent elevation CK as child; MRI-brain Persistent falcine sinus else normal; seizures Tonic SzEEG R posterotemporal; seizures onset 8y, 1 per 2m; divergent squint; hypotonia; <6m-feeding problems 6m; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); seizures (HP:0001250); no growth abnormality (-HP:0001507); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); no absent 5th distal phalanx; no small nails (-HP:0001792); prominent interphalangeal joints (HP:0006237), prominent distal phalanges; no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); strabismus (HP:0000486)	Isolated (sporadic)	09y03m	-	-	-	-	Gijs Santen	00001523
0000000706	-	CSS	brith 40w, weight SD -0.8; MRI-brain Mild delayed myelinisation; generalized hypotonia; birth feeding problems; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate intellectual disability; autism (HP:0000717); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); small nails 5th only; no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); constipation; mild mitral valve insufficiency; no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274);	Isolated (sporadic)	11y	-	-	-	-	Gijs Santen	00001524
0000000707	-	CSS	hyperpigmented macule left shoulder, tight hip flexors with mild spasticity. Truncal hypotonia; seizures onset 2y, 2 per month; hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); focal seizures (HP:0007359); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); apneas secondary to tonsil and adnoid hypertrophy; moderate speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); sparse scalp hair (HP:0002209); normal eyebrow (-HP:0000534); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); no hypertrichosis (-HP:0000998); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); no absent 5th distal phalanx; no small nails (-HP:0001792); no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579); joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274);	Isolated (sporadic)	05y06m	-	-	-	-	Gijs Santen	00001525
0000000708	-	CSS	brith 40w, weight SD 0; no seizures (-HP:0001250); severe speech delay (HP:0000750); severe intellectual disability; friendly personality; anteverted nares (HP:0000463); small nails (HP:0001792); markedly delayed bone age (HP:0003799);; ; joint laxity (HP:0001388); congenital hirschprung disease; no cardiac abnormality (-HP:0001627); corpus callosum agenesis (HP:0001274);	Isolated (sporadic)	10y	-	-	-	-	Gijs Santen	00001526
0000000709	-	CSS	brith 42w, weight SD -1.5, OFC 33.5 cm; Hypoplastic distal phalanx V; no hypotonia; birth feeding problems 0.25y; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); normal vision (-HP:0000504); unilateral hearing loss (HP:0000365); moderate speech delay (HP:0000750); moderate intellectual disability; trichotillomania; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322), wide philtrum (HP:0000289); no wide mouth (-HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); wrinkling skin (HP:0007392); scoliosis (HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); no absent 5th distal phalanx; no small nails (-HP:0001792); no delayed bone age (-HP:0003799), prominent interphalangeal joints (HP:0006237), prominent distal phalanges, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); no recurrent infections (-HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274);	Isolated (sporadic)	14y06m	-	-	-	-	Gijs Santen	00001527
0000000710	-	CSS	brith 40w, weight SD -3; severe failure to thrive, 18 teeth at 3y; no hypotonia; no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; normal behaviour (-HP:0000708); sparse scalp hair (HP:0002209); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); no hypertrichosis (-HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); multiple small nails; markedly delayed bone age (HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); AVSD, double outlet right ventricle; no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274);	Isolated (sporadic)	03y	-	-	-	-	Gijs Santen	00001528
0000000711	-	CSS	brith 38w, weight SD -3, microcephaly; neonatal breathing diffiuclites, gastroesophageal reflux, fundoplication, chronic lung disease and bronchiectasis and lots of respiratory secretions, with secondary pulmonary hypertension, Oxygen dependent,Cryporchidism,Pubic hair since age 6y,Nasal obstruction, bilateral coax vara, no crying, dry fragile skin in infancy, asthma/hayfever, gynaecomastia, brachycephaly, thick guns, small down-slanting palpebral fissures, small chin, prominent fetal finger pads when younger, optic nerve hypoplasia; seizures onset 10y; anisometropic amblyopia, nr optic nerve hypoplasia (too unwell to be investigated); generalized hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); seizures (HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156); multiple small nails; no prominent interphalangeal joints (-HP:0006237) , prominent distal phalanges; hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); pyloric stenosis and inguinal hernia; dextrocardia; no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); corpus callosum hypoplasia (HP:0002079), partial agenesis corpus callosum; pyloric stenosis (HP:0002021); inguinal hernia (HP:0000023); myopia (HP:0000545);	Isolated (sporadic)	10y11m	-	-	-	-	Gijs Santen	00001529
0000000712	-	CSS	brith 37w, weight SD -1.2; high pain threshold, pulls out hair; laryngomalacia, 3-4 café-au-lait patches, sacral dimple, right single plamer crease, tongue tie, cold hands and feet, optic nerve hypoplasia; seizures onset 3y; optic nerve hypoplasia; generalized hypotonia; birth feeding problems ongoing; eczema (HP:0000964); no vascular skin abnormality (-HP:0011276); generalized tonic-clonic seizures (HP:0002069); delayed growth (HP:00001510); no hearing loss (-HP:0000365), sensitive hearing; severe speech delay (HP:0000750); severe intellectual disability; autism (HP:0000717); normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); multiple small nails; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, cone shaped epiphyses (HP:0010579), hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); corpus callosum agenesis (HP:0001274), colpocephaly (HP:0030048), Dandy-Walker malformation (HP:0001305), agenesis corpus callosum (HP:0001274); umbilical hernia (HP:0001537); astigmatism (HP:0000483);	Isolated (sporadic)	09y01m	-	-	-	-	Gijs Santen	00001530
0000000713	-	CSS	brith 41w, weight SD -2; Central Obestity and thin limbs,Diabetes mellitus and Hypertension,Died suddenly, renal absesses,Cryptorchidism,Pes planus,Long columella,Laryngomalacia,Incomplete puberty,Constipation,High pain threshold,Gynaecomatsia,Prognathia,Lots moles; hypotonia; birth feeding problems 2y; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); abnormal vision (HP:0000504); bilateral hearing loss (HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; likes routine, poor eye contact, poor sleep; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); normal gross motor skills (-HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); short philtrum (HP:0000322), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179), thick upper lip vermillion (HP:0000215); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156); small nails 5th only; prominent interphalangeal joints (HP:0006237), prominent distal phalanges;; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274); strabismus (HP:0000486)	Isolated (sporadic)	24y	-	-	-	-	Gijs Santen	00001531
0000000714	-	CSS	brith 40w+5, weight SD -1; hypopigmented patch, triangular face, pointed chin, mild knee contractures, broad thumbs/halluces, squared off fingers/toes, tight Achilles, excitable, short concentration; normal vision; no hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); febrile seizures (HP:0002373); delayed growth (HP:00001510); no hearing loss (-HP:0000365); glue ear; severe speech delay (HP:0000750); severe intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); normal gross motor skills (-HP:0002194), delayed fine motor skills (HP:0010862); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), no anteverted nares (-HP:0000463), thick alae (HP:0009928); wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); no small nails (-HP:0001792); accelerated bone age (HP:0002805), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); atrial septal defect; no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274);	Isolated (sporadic)	06y06m	-	-	-	-	Gijs Santen	00001532
0000000715	-	CSS	brith 41w, weight SD 1; mid face hypoplasia, hypertelorism, dental decay, mild lumbar lordosis, Shoret halluces, GOR, constipation; episodes of eye rolling; birth feeding problems; glue ear; mild speech delay (HP:0000750); mild intellectual disability; lashes out, poor sleep; anteverted nares (HP:0000463); long philtrum (HP:0000343); no pectus excavatum (-HP:0000767); no small patella (-HP:0003065); brachydactyly (HP:000156); markedly delayed bone age (HP:0003799); no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); recurrent infections (HP:0002719); MRI brain normal;	Isolated (sporadic)	09y	-	-	-	-	Gijs Santen	00001533
0000000716	-	CSS	brith 36w+1, weight SD -1; Ataxia and involuntary movement,Joint contractures at birth,Laryngomalacia,Tongue tie,Constipation,No crying when hurt,Early breast development,2 blind ending sacral pits,Pes planvalgus,Down slanting palpebral fissures,Stiff ankles,Long straight nose,Tuberculosis age 1.5y; hypotonia; birth feeding problems; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); normal vision (-HP:0000504); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate intellectual disability; picks nails, some obsessive behaviours; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156); hypoplastic 5th distal phalanx; small nails 5th only; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange; hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); inguinal hernia; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); corpus callosum abnormality (HP:001273), partial agenesis corpus callosum; inguinal hernia (HP:0000023);	Isolated (sporadic)	12y01m	-	-	-	-	Gijs Santen	00001534
0000000717	-	CSS	brith 39w, weight SD -1.3, OFC 49 cm; tantrums, long hands and feet,Sacral dimple,Stridor in first week,Extra front tooth,Enlarged labia,Gluten sensitivity,Lactose intolerance,Sllep difficulties,Plaigocephaly,Brachycephaly,Bulbous nasal tip,Long nose,Pointed chin; sensitive to light; generalized hypotonia; birth feeding problems; eczema (HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate-severe intellectual disability; autism (HP:0000717); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); normal philtrum (-HP:0000288); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); pectus excavatum (HP:0000767); no brachydactyly (-HP:000156); no small nails (-HP:0001792); markedly delayed bone age (HP:0003799), prominent interphalangeal joints (HP:0006237), prominent distal phalanges;; joint laxity (HP:0001388); umbilical hernia; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); MRI brain normal;	Isolated (sporadic)	13y04m	-	-	-	-	Gijs Santen	00001535
0000000718	-	CSS	brith 39w, weight SD 0; Pointed chin,Strawberry naevus,Droolinmg,Night seats,Cold hands and feet,Tires easily; hypotonia; birth feeding problems ongoing; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; panic attacks, difficult to manage; sparse scalp hair (HP:0002209); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); normal gross motor skills (-HP:0002194), delayed fine motor skills (HP:0010862); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); no absent 5th distal phalanx; small nails 5th only; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579); joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); recurrent infections (HP:0002719); corpus callosum hypoplasia (HP:0002079), partial agenesis corpus callosum; strabismus (HP:0000486)	Isolated (sporadic)	06y11m	-	-	-	-	Gijs Santen	00001536
0000000719	-	CSS	brith 40w, weight SD 2.3; short neck, small teeth with gaps, hypopigmented patch, small hands and feet, long fingers, minor leg length discrepancy, no axilliary hair, constipation, high pain threshold; delayed visual maturation; generalized hypotonia; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); glue ear, sensitive to sounds; severe speech delay (HP:0000750); severe intellectual disability; anxiety (HP:0000739), autism (HP:0000717); normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); no ptosis (-HP:0000520); choanal stenosis (HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), no anteverted nares (-HP:0000463), thick alae (HP:0009928); normal philtrum (-HP:0000288); wide mouth (HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); no small nails (-HP:0001792); markedly delayed bone age (HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); recurrent infections (HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274); umbilical hernia (HP:0001537); strabismus (HP:0000486), nystagmus (HP:0000639)	Isolated (sporadic)	17y	-	-	-	-	Gijs Santen	00001537
0000000720	-	CSS	brith 39w, weight SD -1.3; Mirror movements,Ridged palate,Down-slanting palpebral fissures,Plaigocephaly,Gaps in lower teeth,Sloping shoulders,Prominent sternum,Cryptorchidism,No crying,Gastroesophageal reflux,Laryngomalacia,Lactose intolerance,Poor facial expression,Pes planus,Prominent heels,Long halluces; hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); normal vision (-HP:0000504); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); severe intellectual disability; poor danger awareness, short attention span; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), no anteverted nares (-HP:0000463); long philtrum (HP:0000343); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); small nails 5th only; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange;; joint laxity (HP:0001388); pyloric stenosis; no cardiac abnormality (-HP:0001627); mild calyceal fullness kidney; recurrent infections (HP:0002719); corpus callosum agenesis partial (HP:0001388), Dandy-Walker malformation (HP:0001305), partial agenesis corpus callosum; pyloric stenosis (HP:0002021);	Isolated (sporadic)	04y11m	-	-	-	-	Gijs Santen	00001538
0000000721	-	CSS	brith 38w, weight SD -1; Slightly coarse. Puffy under eyes. Mother has optic disc coloboma and nystagmus (but no DD,LD or other health problems )so eye signs likely unrelated, 1st tooth at 1y; MRI-brain Normal (mega cisterna magna); Right optic disc coloboma and nystagmus(similar to mother); birth feeding problems; no seizures (-HP:0001250); undescended testes; severe speech delay (HP:0000750); moderate-severe intellectual disability; normal behaviour (-HP:0000708); anteverted nares (HP:0000463); normal philtrum (-HP:0000288); no pectus excavatum (-HP:0000767); brachydactyly (HP:000156);;; no intestinal anomalies (-HP:0002242); atrial septal defect; no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); coloboma (HP:0000589);	Isolated (sporadic)	01y	-	-	-	-	Gijs Santen	00001539
0000000722	-	CSS	brith 40w, weight SD -3, OFC 35 cm; supernumerary thoracic vertebra (T13), cleft T5, bifid V rib; MRI-brain Mega cisterna magna, Absent rostrum corpus callosum and septum pellucidum, Hypoplastic posterior part corpus callosum; generalized hypotonia; birth abdominal feeding problems ongoing; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); moderate-severe speech delayed (HP:0000750); moderate-severe intellectual disability; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); choanal stenosis (HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); no wide mouth (-HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); multiple small nails; no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); partial agenesis corpus callosum; optic disk (nerve) coloboma (HP:0000588);	Isolated (sporadic)	01y02m	-	-	-	-	Gijs Santen	00001540
0000000723	-	CSS	brith 42w, weight SD -3; Tracheomalacia in infancy; birth feeding problems; no seizures (-HP:0001250); mild speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); anteverted nares (HP:0000463); long philtrum (HP:0000343), wide philtrum (HP:0000289); no pectus excavatum (-HP:0000767); no small patella (-HP:0003065); brachydactyly (HP:000156); no delayed bone age (-HP:0003799); no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545);	Isolated (sporadic)	15y	-	-	-	-	Gijs Santen	00001541
0000000724	-	CSS	brith 42w, weight SD -1.2; myopia -4.5D (HP:0000545); hypotonia; birth feeding problems; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); mild-moderate speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); no absent 5th distal phalanx; small nails 5th only; no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, cone shaped epiphyses (HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545);	Isolated (sporadic)	04y	-	-	-	-	Gijs Santen	00001542
0000000725	-	CSS	brith 42w; delayed puberty; generalized hypotonia; eczema (HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); moderate-severe intellectual disability; autism (HP:0000717); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); no wide mouth (-HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); no small nails (-HP:0001792); no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); no recurrent infections (-HP:0002719); partial agenesis corpus callosum; myopia (HP:0000545);	Isolated (sporadic)	13y	-	-	-	-	Gijs Santen	00001543
0000000726	-	CSS	brith post term, weight SD 1; hair microscopy normal,Rarely sweats,Never had nails cut.,Reduced subcutaneous fat,Fetal pads,Long toes with bulbous tips,Coarse face; MRI-brain Increased perivascular spaces; seizures, initially just loss of consciousness, 2y6m 1st generalised tonic-clonic seizure; seizures onset 2y, 1 per 2m; no hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); seizures (HP:0001250), generalized tonic-clonic seizures (HP:0002069); normal vision (-HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); moderate-severe intellectual disability; active, tries to escape, erratic, no sense of danger, 8y-eating excessively, sleeps little, 10y-obsessive, does not like clothes; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); no absent 5th distal phalanx; no small nails (-HP:0001792); prominent interphalangeal joints (HP:0006237), no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); diarrhoea,umbilical hernia; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no agenesis corpus callosum (-HP:0001274);	Isolated (sporadic)	10y	-	-	-	-	Gijs Santen	00001544
0000000727	-	CSS	brith 38w, weight SD -2.3, OFC 31.8 cm (9th centile); Hair microscopy normal, short anagen cycle,Sensitive to the sun. reduced sweating. Overheats.,Skin biopsy normal ie not cockayne,Reduced subcutaneous fat,Family history of x-linked ichthyosis,STS normal,Fetal pads on feet,Long fingers and toes,Red palms,Coarse face,EEG normal / west syndrome; one fused canine; MRI-brain Normal / reduced white matter / immature myelin; seizures onset 9m; generalized tonic-clonic seizures (HP:0002069); severe speech delay (HP:0000750); moderate intellectual disability; stubborn; anteverted nares (HP:0000463); wide philtrum (HP:0000289); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156);; no hypoplastic phalanges fingers/toes; constipation; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); astigmatism (HP:0000483);	Isolated (sporadic)	06y	-	-	-	-	Gijs Santen	00001545
0000000728	-	CSS	brith 38w, weight SD -0.3, OFC 34 cm; myopia severe -11D (HP:0011003); hypotonia; birth feeding problems brief; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); mild speech delay (HP:0000750); moderate intellectual disability; hypersociablility; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), normal fine motor skills (-HP:0010862); abnormal lacrimal duct (HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); small patella (HP:0003065); hypoplastic 5th distal phalanx; small nails 5th only;; ; hypoplastic phalanges fingers/toes; partial agenesis corpus callosum; severe myopia (HP:0011003);	Isolated (sporadic)	13y	-	-	-	-	Gijs Santen	00001546
0000000729	-	CSS	brith 42w, weight SD 0.3; complex partial seizures; seizures onset 3y, low frequency; pale optic discs; hypotonia; birth feeding problems brief; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); seizures (HP:0001250); no growth abnormality (-HP:0001507); chronic otitis media (HP:0000389); severe speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); no wide mouth (-HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); no absent 5th distal phalanx; small nails 5th only; no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274);	Isolated (sporadic)	03y06m	-	-	-	-	Gijs Santen	00001547
0000000730	-	CSS	brith 38w, weight SD 0, OFC 36 cm; glabellar hemangioma in neonatal period,- 2 angiomatous tumors (0.5cm) on the bottom, spontaneous regression,- Bilateral cryptorchidism,- grimacing cry during the first months, persistent fetal pads; MRI-brain Mega magna cisterna; myopia -2D (HP:0000545); no seizures (-HP:0001250); severe speech delay (HP:0000750); mild-moderate intellectual disability; poor sociability, short attention span (HP:0000736); no anteverted nares (-HP:0000463); long philtrum (HP:0000343), wide philtrum (HP:0000289); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156); no delayed bone age (-HP:0003799); cone shaped epiphyses (HP:0010579), hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545); convergent strabismus (HP:0020054)	Isolated (sporadic)	04y08m	-	-	-	-	Gijs Santen	00001548
0000000731	-	CSS	brith 38w/40w, weight SD -0.5; slight squint; hypotonia; no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate intellectual disability; tantrums, aggressive outbursts, difficulty socialising; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); pectus carinatum; no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); no absent 5th distal phalanx; multiple small nails (incl. 5th); no prominent interphalangeal joints (-HP:0006237);; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); MRI brain normal; myopia (HP:0000545); strabismus (HP:0000486)	Isolated (sporadic)	04y	-	-	-	-	Gijs Santen	00001549
0000000732	-	CSS	brith 41w, weight SD -0.8, OFC 35 cm; hypotonia; <6m-feeding problems ongoing; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); normal vision (-HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); moderate intellectual disability; obsessive/rigid; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); no absent 5th distal phalanx; no small nails (-HP:0001792); no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274);	Isolated (sporadic)	07y	-	-	-	-	Gijs Santen	00001550
0000000733	-	CSS	brith 39w, weight SD -0.9, OFC 35 cm; Bifid uvula; hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); mild intellectual disability; behaviour instable; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); delayed gross motor skills (HP:0002194); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); wide mouth (HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); dislocated elbows (HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); small nails 5th only;; no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; pyloric stenosis; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); pyloric stenosis (HP:0002021); astigmatism (HP:0000483), myopia (HP:0000545);	Isolated (sporadic)	06y11m	-	-	-	-	Gijs Santen	00001551
0000000734	-	CSS	brith 41w, weight SD -1, OFC 34 cm; Bulbous/wide nasal tip, downturned corners of mouth; MRI-brain hypoplastic left cerebellar lobe; hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); febrile seizures (HP:0002373); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463); short philtrum (HP:0000322), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); wrinkling skin (HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); no absent 5th distal phalanx; small nails 5th only; no delayed bone age (-HP:0003799); no prominent distal phalange, cone shaped epiphyses (HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); astigmatism (HP:0000483); strabismus (HP:0000486)	Isolated (sporadic)	09y	-	-	-	-	Gijs Santen	00001552
0000000735	-	CSS	brith 40w, weight SD -0.6, OFC 35 cm; Large abdomen (flatulence, bloat of ab domen), severe problems with function of digestive track recurrence diarrhea and constipation from age of 5 finished, but large abdomen is evident; myopia severe -7D (HP:0011003); birth feeding problems; no seizures (-HP:0001250); severe speech delay (HP:0000750); moderate intellectual disability; nice, calm boy, anxious (e.g. during the meals), big appetite; no anteverted nares (-HP:0000463); wide philtrum (HP:0000289); pectus excavatum (HP:0000767); brachydactyly (HP:000156); advanced bone age (HP:0002805); no hypoplastic phalanges fingers/toes; constipation; atrial septal defect; no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); agenesis corpus callosum (HP:0001274); severe myopia (HP:0011003);	Isolated (sporadic)	05y02m	-	-	-	-	Gijs Santen	00001553
0000000736	-	CSS	brith 41w, weight SD -1, OFC 32 cm; Single umbilical artery; hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); brachydactyly (HP:000156); absent 5th distal phalanx; multiple small nails (incl. 5th);; ; hypoplastic phalanges fingers/toes; aortic coarctation, PFO; MRI brain normal;	Isolated (sporadic)	00y02m	-	-	-	-	Gijs Santen	00001554
0000000737	-	CSS	no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no growth abnormality (-HP:0001507); severe speech delay (HP:0000750); mild intellectual disability; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), no anteverted nares (-HP:0000463); wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); no small nails (-HP:0001792);; ;;	Isolated (sporadic)	23y	-	-	-	-	Gijs Santen	00001555
0000000738	-	CSS	brith 40w, weight SD -4, OFC 33 cm; Congenital heart,disease (Aort quartation, PFO; MRI-brain ventricular asymmetry, myelination delay, mega sisterma magna; hypotonia; birth feeding problems 2y; no eczema (-HP:0000964); cutis marmorata (HP:0000965); no seizures (-HP:0001250); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); sparse scalp hair (HP:0002209); normal eyebrow (-HP:0000534); delayed gross motor skills (HP:0002194); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); short philtrum (HP:0000322), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); no hypertrichosis (-HP:0000998); wrinkling skin (HP:0007392); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); no absent 5th distal phalanx; multiple small nails (incl. 5th); prominent interphalangeal joints (HP:0006237), prominent distal phalanges;; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); cardiac abnormality (HP:0001627);	Isolated (sporadic)	03y	-	-	-	-	Gijs Santen	00001556
0000000739	-	CSS	brith 39w, weight SD -0.8, OFC 34 cm; no hypotonia; birth feeding problems brief; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); normal vision (-HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); delayed gross motor skills (HP:0002194); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); short philtrum (HP:0000322), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); no absent 5th distal phalanx; multiple small nails (incl. 5th); prominent interphalangeal joints (HP:0006237), prominent distal phalanges; hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); agenesis corpus callosum (HP:0001274);	Isolated (sporadic)	13y	-	-	-	-	Gijs Santen	00001557
0000000740	-	CSS	brith 41w, weight SD 0.2, OFC 36 cm; high narrow palate, two café au lait spots (2x1 cm) on trunk; generalized hypotonia; birth feeding problems; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; attention span short;hyperactivity; sparse scalp hair (HP:0002209); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343); no wide mouth (-HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); pectus excavatum (HP:0000767); brachydactyly (HP:000156); multiple small nails; prominent interphalangeal joints (HP:0006237), no prominent distal phalange;; no intestinal anomalies (-HP:0002242); ventricular septal defect; no kidney abnormality (-HP:0000077);	Isolated (sporadic)	04y	-	-	-	-	Gijs Santen	00001558
0000000741	-	CSS	brith 39w, weight SD 0.3, OFC 36 cm; high-arched palate, transverse creases on the hands; myopia -4D (HP:0000545); generalized hypotonia; eczema (HP:0000964); no seizures (-HP:0001250); delayed growth (HP:00001510); abnormal vision (HP:0000504); hearing loss (HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; abnormal; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); small nails 5th only; prominent interphalangeal joints (HP:0006237), no prominent distal phalange; no hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545);	Isolated (sporadic)	03y06m	-	-	-	-	Gijs Santen	00001559
0000000742	-	CSS	brith 37w, weight SD -0.8, OFC 32,5 cm; seizures onset 2y; myopia severe -9.5D (HP:0011003); no hypotonia; birth feeding problems brief; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); seizures (HP:0001250); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate intellectual disability; hyperactivity (HP:0000752); normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); wide philtrum (HP:0000289); no wide mouth (-HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); pectus excavatum (HP:0000767); dislocated elbows (HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); no small nails (-HP:0001792); prominent interphalangeal joints (HP:0006237), prominent distal phalanges, no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; pyloric stenosis; recurrent infections (HP:0002719); MRI brain normal; pyloric stenosis (HP:0002021); severe myopia (HP:0011003);	Isolated (sporadic)	19y	-	-	-	-	Gijs Santen	00001560
0000000743	-	CSS	brith 38w+5, weight 3.21 kg; Persistent elevated AFP as young child; corneal ulceration; hypotonia; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); abnormal vision (HP:0000504); bilateral hearing loss (HP:0000365); severe speech delay (HP:0000750); mild-moderate intellectual disability; prefers adult company; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); no small nails (-HP:0001792); no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); MRI brain normal; astigmatism (HP:0000483); divergent strabismus (HP:0020045)	Isolated (sporadic)	07y10m	-	-	-	-	Gijs Santen	00001561
0000000744	-	CSS	generalized hypotonia; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); speech delayed (HP:0000750); cognitive impairment (HP:0100543); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); no ptosis (-HP:0000520); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); wrinkling skin (HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); small nails 5th only; markedly delayed bone age (HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange; hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); Inguinosrotal hernia; ventricular septal defect; kidney abnormality (HP:0000077); recurrent infections (HP:0002719); MRI brain normal;	Isolated (sporadic)	00y11m	-	-	-	-	Gijs Santen	00001562
0000000745	-	CSS	brith 42w, weight SD -0.7; Autism, strabismus; no hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343); no wide mouth (-HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); no absent 5th distal phalanx; no small nails (-HP:0001792); no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange; no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); colpocephaly (HP:0030048), agenesis corpus callosum (HP:0001274); strabismus (HP:0000486)	Isolated (sporadic)	10y	-	-	-	-	Gijs Santen	00001563
0000000746	-	CSS	brith 40w, weight SD 0.4, OFC 36.9 cm; Fetal finger pads; hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); normal vision (-HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); normal philtrum (-HP:0000288); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179), thick upper lip vermillion (HP:0000215); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); absent 5th distal phalanx; small nails 5th only; markedly delayed bone age (HP:0003799);; hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); partial agenesis corpus callosum;	Isolated (sporadic)	16y	-	-	-	-	Gijs Santen	00001564
0000000747	-	CSS	brith 39w, weight SD 0.2; Colpocephaly, strabismus, fetal pads; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); moderate intellectual disability; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463); normal philtrum (-HP:0000288); wide mouth (HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); absent 5th distal phalanx; small nails 5th only;; ; hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); constipation; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); agenesis corpus callosum (HP:0001274); strabismus (HP:0000486)	Isolated (sporadic)	?	-	-	-	-	Gijs Santen	00001565
0000015001	-	CSS	mild developmental delay, microcephaly; absent/hypoplastic fifth finger/toenails, hypertrichosis, sparse scalp hair; everted lower lip, abnormal ears; absent/hypoplastic fifth phalanx (hand), absent/hypoplastic fifth phalanx (foot), clinodactyly, short stature; hypogonadotrophic hypogonadism, bilateral malrotated kidneys; retardation prenatal; highly arched eyebrow (HP:0002553);;	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00004129
0000034730	-	CSS	extreme obesity, macrocephaly, hepatomegaly, hyperinsulinism, polycystic ovarian syndrome	Isolated (sporadic)	16y	-	-	-	-	Margit Noukas	00048004
0000034731	Coffin-Siris syndrome	CSS1	coarse face, low frontal hairline, synophrys, thick eyebrows, broad nose, thick, anteverted alae nasi, large mounth, Thin upper vermillion, thick lower vermillion, short philtrum, short neck and large ears,bilaterally big, large thumb and short second finger on food, hallux valgus and pes planus	Isolated (sporadic)	15y	-	-	-	-	Eyyup Uctepe	00048005
0000034741	-	CSS	see paper; ...	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00048041
0000036696	-	CSS	brith 38w, weight 2340 g (SD -1.9), OFC 30.5 cm (SD -1.8); birth length length 45cm(-2.2); 5m-head, 11m-sit, 1y11m-walk; speak 1y7m; developmental delay, microcephaly; absent/hypoplastic fifth finger/toenails, hypertrichosis, abnormal/delayed dentition; mid facial hypoplasia, thick lips, everted lower lip, abnormal ears, high palate, ptosis, short philtrum; clinodactyly, short stature, sucking problems; small left kidney; generalized hypotonia; feeding problems esp. neonatal period; seizures (HP:0001250); prenatal growth retardation (HP:0001511); abnormal vision (HP:0000504); highly arched eyebrow (HP:0002553); long eyelashes (HP:0000527); flat (depressed/low) nasal bridge (HP:0005280); ;	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00004128
0000043084	Coffin-Siris syndrome	CSS1	see paper; ..., birth 38w; intellectual disability; 27m-walk; 36m-first words; hypotonia; no seizures; frequent infections; feeding problems; friendly, quiet, easily distracted, shy; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; no flat nasal bridge; no broad nose; no upturned nasal tip; thick, anteverted alae nasi; large mouth; no thin upper vermillion; thick lower vermillion; no macroglossia; short philtrum; no long philtrum; abnormal ears; a/hypoplasia distal phalanges V; no prominent distal phalanges; no sandal gap; no scoliosis; no congenital heart disease; body hirsutism; no sparse scalp hair; left nail a/hypoplasia; delayed dentition (13m); no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum;	Isolated (sporadic)	-	00y30m	-	-	-	Eline van der Sluijs	00056412
0000043085	Coffin-Siris syndrome	CSS1	see paper; ..., birth 39w; intellectual disability; 20m-walk; hypotonia; no seizures; no vision problem; no hearing loss; no frequent infections; feeding problems; no behavioural anomalies; coarse face; low frontal hairline; synophrys; thick eyebrows; long eyelashes; ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; no upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; macroglossia; short philtrum; no abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; no spinal anomalies; delayed bone age (12m); no scoliosis; no congenital heart disease, septal aneurysm with no shunt; body hirsutism; increased skin wrinkling; fetal finger pads; no sparse scalp hair; nail a/hypoplasia; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum; renal cysts	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00056413
0000043086	Coffin-Siris syndrome	CSS1	see paper; ..., birth 40w; intellectual disability; 15m-sit, 24m-walk; no speech; hypotonia; seizures [y]; no vision problem; no hearing loss; frequent infections; feeding problems; no behavioural anomalies; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; no upturned nasal tip; no thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; no macroglossia; short philtrum; no long philtrum; no abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; prominent interphalangeal joints; prominent distal phalanges; no sandal gap; no spinal anomalies; normal bone age; no scoliosis; no cryptorchidism; no fetal finger pads; sparse scalp hair; no nail a/hypoplasia; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum;	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00056414
0000043087	Coffin-Siris syndrome	CSS1	see paper; ..., birth 40w; intellectual disability; 11m-sit, 28m-walk; 48m-first words; no seizures; no hearing loss; no frequent infections; no feeding problems; no behavioural anomalies; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; no flat nasal bridge; broad nose; no upturned nasal tip; thick, anteverted alae nasi; large mouth; thick lower vermillion; macroglossia; short philtrum; no long philtrum; abnormal ears; no cleft palate; mild a/hypoplasia distal phalanges V; no prominent interphalangeal joints; no prominent distal phalanges; no spinal anomalies; cryptorchidism; no congenital heart disease; body hirsutism; no increased skin wrinkling; fetal finger pads; mild sparse scalp hair; mild nail a/hypoplasia; abnormal dentition ("conic" teeth), hippocampal malrotation; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum; umbilical hernia	Isolated (sporadic)	-	04y	-	-	-	Eline van der Sluijs	00056415
0000043088	Coffin-Siris syndrome	CSS1	see paper; ..., birth 38w; intellectual disability; 20m-sit, 60m-walk; 72m-first words; hypotonia; no seizures; no vision problem; no frequent infections; no feeding problems; behavioural anomalies; coarse face; low frontal hairline; synophrys; thick eyebrows; long eyelashes; no ptosis; narrow palpebral fissures; flat nasal bridge; broad nose; no upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; macroglossia; no short philtrum; long philtrum; abnormal ears; no cleft palate; generally short distal phalanges; prominent interphalangeal joints; prominent distal phalanges; no cryptorchidism; no congenital heart disease; body hirsutism; increased skin wrinkling; fetal finger pads; no nail a/hypoplasia; delayed dentition;	Isolated (sporadic)	-	07y	-	-	-	Eline van der Sluijs	00056416
0000043089	Coffin-Siris syndrome	CSS1	see paper; ..., birth 37w; intellectual disability; 10m-sit, 24m-walk; 23m-first words; hypotonia; seizures [y]; strabismus, suspected optical atrophy; no hearing loss; frequent infections; feeding problems; aggressive behaviour; coarse face; low frontal hairline; synophrys; thick eyebrows; long eyelashes; no ptosis; narrow palpebral fissures; no flat nasal bridge; broad nose; no upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; macroglossia; no short philtrum; long philtrum; low-set, large ear lobes; no cleft palate; brachymesophalangy V, generally short distal phalanges; no short metacarpals/metatarsals; no prominent interphalangeal joints; no prominent distal phalanges; delayed bone age (13m); right cryptorchidism; slight mitral insufficiency; body hirsutism; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; no nail a/hypoplasia; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum; choroideal cysts in right and left lateral ventricle	Isolated (sporadic)	-	00y01m	-	-	-	Eline van der Sluijs	00056417
0000043090	Coffin-Siris syndrome	CSS1	see paper; ..., birth 40w; intellectual disability; 9m-sit; no speech; hypotonia; no seizures; no vision problem; nystagmus, strabismus; no frequent infections; feeding problems; no behavioural anomalies; coarse face; low frontal hairline; synophrys; thick eyebrows; long eyelashes; ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; no upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; macroglossia; no short philtrum; long philtrum; abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; prominent interphalangeal joints; prominent distal phalanges; no sandal gap; no spinal anomalies; no scoliosis; no cryptorchidism; no congenital heart disease; body hirsutism; increased skin wrinkling; no fetal finger pads; sparse scalp hair; nail a/hypoplasia; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum;	Isolated (sporadic)	-	00y15m	-	-	-	Eline van der Sluijs	00056418
0000043091	Coffin-Siris syndrome	CSS1	see paper; ..., birth 38w; intellectual disability; 12 m-sit, 30m-walk; 30m-first words; no hypotonia; no seizures; ?; no hearing loss; no frequent infections; feeding problems; no behavioural anomalies; no coarse face; no low frontal hairline; no synophrys; thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; flat nasal bridge; no broad nose; upturned nasal tip; thick, anteverted alae nasi; large mouth; no thin upper vermillion; no thick lower vermillion; no macroglossia; no short philtrum; no long philtrum; no abnormal ears; no cleft palate; no a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; no prominent interphalangeal joints; no prominent distal phalanges; no sandal gap; no spinal anomalies; no scoliosis; body hirsutism; sparse scalp hair; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum;	Isolated (sporadic)	-	03y	-	-	-	Eline van der Sluijs	00056419
0000043092	Coffin-Siris syndrome	CSS1	see paper; ..., birth 41w; intellectual disability; m-sit, 21m-wal; 36m-first words; hypotonia; no seizures; no vision problem; no frequent infections; feeding problems; no behavioural anomalies; coarse face; low frontal hairline; no synophrys; thick eyebrows; no long eyelashes; no ptosis; no narrow palpebral fissures; no flat nasal bridge; broad nose; no upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; no thick lower vermillion; macroglossia; no short philtrum; long philtrum; no abnormal ears; no cleft palate; both 5 toes distal phalanx hypoplastic, missing middle phalanx; no short metacarpals/metatarsals; no prominent interphalangeal joints; no prominent distal phalanges; no sandal gap; no spinal anomalies; no scoliosis; no cryptorchidism; no congenital heart disease; no body hirsutism; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; no nail a/hypoplasia; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum;	Isolated (sporadic)	-	03y	-	-	-	Eline van der Sluijs	00056420
0000043093	Coffin-Siris syndrome	CSS1	see paper; ..., birth 38w; intellectual disability; 12m-sit, 24m-walk; 48m-first words; hypotonia; no seizures; refractory error; no hearing loss; no frequent infections; no behavioural anomalies; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; no upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; no macroglossia; no short philtrum; long philtrum; no abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; prominent interphalangeal joints; prominent distal phalanges; no sandal gap; no spinal anomalies; delayed bone age; scoliosis; no cryptorchidism; no congenital heart disease; body hirsutism; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; nail a/hypoplasia; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum; umbilical hernia	Isolated (sporadic)	-	08y	-	-	-	Eline van der Sluijs	00056421
0000043094	Coffin-Siris syndrome	CSS1	see paper; ..., birth 39w; intellectual disability; 9m-sit, 25m-walk; 60m-first words; hypotonia; no seizures; no vision problem; no hearing loss; no frequent infections; no feeding problems; behavioural anomalies, hyperactivity; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; ptosis; narrow palpebral fissures; flat nasal bridge; broad nose; upturned nasal tip; thick, anteverted alae nasi; large mouth; no thin upper vermillion; thick lower vermillion; no macroglossia; short philtrum; no long philtrum; large ears; no cleft palate; a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; prominent interphalangeal joints; no prominent distal phalanges; sandal gap; no spinal anomalies; normal bone age; no scoliosis; no cryptorchidism; PFO; body hirsutism; no increased skin wrinkling; sparse scalp hair; nail a/hypoplasia; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum;	Isolated (sporadic)	-	07y	-	-	-	Eline van der Sluijs	00056422
0000043095	Coffin-Siris syndrome	CSS1	see paper; ..., birth 39w; intellectual disability; late walk; late speech; no seizures; no vision problem; no hearing loss; no behavioural anomalies; coarse face; low frontal hairline; no synophrys; no thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; no flat nasal bridge; broad nose; no upturned nasal tip; thick, anteverted alae nasi; large mouth; no thin upper vermillion; thick lower vermillion; no macroglossia; no short philtrum; no long philtrum; abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; no prominent interphalangeal joints; prominent distal phalanges; sandal gap; no scoliosis; no cryptorchidism; no congenital heart disease; body hirsutism; increased skin wrinkling; fetal finger pads; sparse scalp hair; nail a/hypoplasia;	Isolated (sporadic)	-	00y10m	-	-	-	Eline van der Sluijs	00056423
0000043096	Coffin-Siris syndrome	CSS1	see paper; ..., birth 33w; intellectual disability; 24 m-sit, 30m-walk; 36m-first words; no hypotonia; seizures [y]; refraction error; no hearing loss; no frequent infections; feeding problems; no behavioural anomalies; coarse face; no low frontal hairline; no synophrys; thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; upturned nasal tip; thick, anteverted alae nasi; large mouth; no thin upper vermillion; no thick lower vermillion; no macroglossia; no short philtrum; no long philtrum; abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; no prominent interphalangeal joints; no prominent distal phalanges; no sandal gap; no spinal anomalies; scoliosis; cryptorchidism; ASD; body hirsutism; sparse scalp hair; hypoplasia toe nails; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum;	Isolated (sporadic)	-	04y	-	-	-	Eline van der Sluijs	00056424
0000043097	Coffin-Siris syndrome	CSS1	see paper; ..., birth 40w; intellectual disability; 10m-sit, 20m-walk; no speech; hypotonia; seizures [y]; divergent strabismus; no hearing loss; no frequent infections; no feeding problems; no behavioural anomalies; coarse face; low frontal hairline; no synophrys; thick eyebrows; no long eyelashes; no ptosis; no narrow palpebral fissures; no flat nasal bridge; broad nose; upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; no macroglossia; no short philtrum; long philtrum; abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; prominent interphalangeal joints; prominent distal phalanges; sandal gap; no scoliosis; cryptorchidism; no congenital heart disease; body hirsutism; no increased skin wrinkling; no fetal finger pads; no sparse scalp hair; nail a/hypoplasia; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum;	Isolated (sporadic)	-	07y	-	-	-	Eline van der Sluijs	00056425
0000043098	-	CSS	see paper; …	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00048043
0000043099	-	CSS	see paper; …	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00048044
0000043100	-	CSS	see paper; …	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00048045
0000043101	Coffin-Siris syndrome	CSS2	see paper; ..., birth 38w; intellectual disability; >19m-walk; 12m-first words; hypotonia; seizures [y]; strabismus; no hearing loss; no frequent infections; hyperactivity; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; upturned nasal tip; no thick, anteverted alae nasi; large mouth; no thin upper vermillion; thick lower vermillion; macroglossia; short philtrum; no long philtrum; abnormal ears; no cleft palate; no a/hypoplasia distal phalanges V; short metacarpals/metatarsals; prominent interphalangeal joints; no prominent distal phalanges; sandal gap; no spinal anomalies; delayed bone age; no scoliosis; cryptorchidism; no congenital heart disease; body hirsutism; no increased skin wrinkling; no fetal finger pads; no sparse scalp hair; nail a/hypoplasia; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum; double ureter, diabetes mellitus II	Isolated (sporadic)	-	09y09m	-	-	-	Eline van der Sluijs	00048046
0000043106	-	CSS	see paper; …	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00048023
0000043107	-	CSS	see paper; …	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00048024
0000043108	-	CSS	see paper; …	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00048025
0000043109	-	CSS	see paper; …	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00048026
0000043110	-	CSS	see paper; …	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00048027
0000043111	-	CSS	see paper; …	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00048028
0000043112	-	CSS	see paper; …	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00048029
0000043113	Coffin-Siris syndrome	CSS3	see paper; ..., birth 33w; intellectual disability; 30m-walk; no speech; no hypotonia; seizures [y]; vision problem; hearing loss; frequent infections; feeding problems; hyperactivity; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; no upturned nasal tip; no thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; macroglossia; no short philtrum; no long philtrum; small auditory canal; no cleft palate; a/hypoplasia distal phalanges V (2-4); no prominent distal phalanges; sandal gap; delayed bone age; scoliosis; cryptorchidism; VSD, ASD, pulmonic stenosis; body hirsutism; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; bilateral nail a/hypoplasia; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum; pylorus stenosis	Isolated (sporadic)	-	00y04m	-	-	-	Eline van der Sluijs	00048030
0000043114	Coffin-Siris syndrome	CSS3	see paper; ..., birth 39w; intellectual disability; 7m-sit; 10m-first words; no hypotonia; no frequent infections; feeding problems; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; no macroglossia; no short philtrum; long philtrum; no abnormal ears; no cleft palate; no a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; no prominent interphalangeal joints; no prominent distal phalanges; no sandal gap; no spinal anomalies; no scoliosis; no cryptorchidism; no congenital heart disease; no body hirsutism; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; no nail a/hypoplasia; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum; umbilical hernia	Isolated (sporadic)	-	00y11m	-	-	-	Eline van der Sluijs	00048031
0000043118	-	CSS	see paper; …	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00048033
0000043119	-	CSS	see paper; …	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00048034
0000043120	-	CSS	see paper; …	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00048035
0000043121	-	CSS	see paper; …	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00048036
0000043122	-	CSS	see paper; …	Isolated (sporadic)	-	-	-	-	-	Eline van der Sluijs	00048037

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

Global Variome shared LOVD

BEST1 (bestrophin 1)