All individuals with variants in gene ARID1B

438 entries on 5 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00001503 Pat2 PubMed: Santen 2013 - M - - - - - - - CAAHD, CSS, EPM1A, IVA, JBS, JBTS1, JBTS13, KTZS, LCCS1, MCLMR, MDDGC5;LGMDR9;LGMD2I, PSORS, USH3B 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); 3 1 Gijs Santen
00001505 Pat10;Pat1;Pat256 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - - - - - - - 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); 3 1 Gijs Santen
00001506 Pat11;Pat2 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - F - - - - - - - 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); 1 1 Gijs Santen
00001507 Pat12 PubMed: Santen 2013 - F - - - - - - - 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; 4 1 Gijs Santen
00001509 Pat15;Pat4;Pat314 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - M - - - - - - - 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); 3 1 Gijs Santen
00001510 Pat16;Pat5 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 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; 3 1 Gijs Santen
00001511 Pat18 PubMed: Santen 2013 - F - - - - - - - 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); 2 1 Gijs Santen
00001512 Pat19;Pat6;Pat316 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - - - - - - - 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) 1 1 Gijs Santen
00001513 Pat20;Pat7;Pat317 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - - - - - - - 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); 2 1 Gijs Santen
00001514 - - - F - - - - - - - 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; 2 1 Gijs Santen
00001516 - - - F - - - - - - - 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); 2 1 Gijs Santen
00001517 Pat24;Pat9 PubMed: Santen 2013, van der Sluijs 2024 (submitted) - F - - - - - - - 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) 2 1 Gijs Santen
00001520 - - - F - - - - - - - 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); 3 1 Gijs Santen
00001521 Pat28;Pat10 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 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); 3 1 Gijs Santen
00001522 Pat29;Pat11 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 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); 4 1 Gijs Santen
00001523 Pat30;Pat24 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - F - - - - - - - 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) 3 1 Gijs Santen
00001524 Pat31;Pat25 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 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); 4 1 Gijs Santen
00001525 - - - M - - - - - - - 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); 2 1 Gijs Santen
00001526 Pat33 PubMed: Santen 2013 - M - - - - - - - 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); 2 1 Gijs Santen
00001527 Pat34;Pat26 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - F - - - - - - - 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); 3 1 Gijs Santen
00001528 - - - M - - - - - - - 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); 3 1 Gijs Santen
00001529 Pat37 PubMed: Santen 2013 - M - - - - - - - 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); 3 1 Gijs Santen
00001531 Pat39;Pat27;Pat324 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - M - - - - - - - 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) 3 1 Gijs Santen
00001533 - - - F - - - - - - - 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; 2 1 Gijs Santen
00001534 Pat42 PubMed: Santen 2013 - F - - - - - - - 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); 3 1 Gijs Santen
00001535 Pat43 PubMed: Santen 2013 - F - - - - - - - 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; 1 1 Gijs Santen
00001537 - - - F - - - - - - - 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) 2 1 Gijs Santen
00001538 Pat46 PubMed: Santen 2013 - M - - - - - - - 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); 2 1 Gijs Santen
00001540 Pat48 PubMed: Santen 2013 - F - - - - - - - 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); 3 1 Gijs Santen
00001541 Pat49;Pat32 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - F - - - - - - - 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); 3 1 Gijs Santen
00001542 Pat50;Pat33 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - F - - - - - - - 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); 3 1 Gijs Santen
00001543 Pat51;Pat34;Pat328 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - - - - - - - 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); 5 1 Gijs Santen
00001544 Pat52 PubMed: Santen 2013 - M - - - - - - - NCBRS 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); 2 1 Gijs Santen
00001546 Pat55;Pat39;Pat329 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - - - - - - - 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); 2 1 Gijs Santen
00001547 Pat56;Pat40 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 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); 3 1 Gijs Santen
00001548 Pat57;Pat41 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 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) 1 1 Gijs Santen
00001549 - - - F - - - - - - - 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) 3 1 Gijs Santen
00001550 Pat62;Pat42 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - F - - - - - - - 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); 1 1 Gijs Santen
00001551 Pat63;Pat43 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 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); 1 1 Gijs Santen
00001553 Pat65;Pat44 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 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); 1 1 Gijs Santen
00001558 Pat70 PubMed: Santen 2013 - M - - - - - - - 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); 1 1 Gijs Santen
00001561 Pat73;Pat45 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 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) 1 1 Gijs Santen
00016890 - PubMed: Homan 2014 2-generation family, 1 affected, unaffected heterozygous carrier mother/grandmother M ? United States - - - - - ID Prenatally: a raised maternal serum alpha-fetoprotein, intrauterine growth restriction, and an ectopic left kidney. Postnatally: feeding difficulties, hypotonia, tracheomalacia, gastro-esophageal reflux disease and developmental delay with speech development most affected. Broad thumbs, curving toe nails and short stature. 9y: ID (nonverbal, speech having regressed at 3y), obsessive and autistic behaviors, elevated testosterone and decreased, cholesterol levels, short stature 1 1 Marianne Vos (LOVD-team)
00047953 Pat1;Pat48;Pat344 PubMed: Santen 2012, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - Netherlands - - - - - CSS birth 42w; severe intellectual disability; severe speech delay; coarse facial features; thick eyebrows; low frontal hairline; hypertrichosis; joint laxity; brachydactyly; brachydactyly fifth finger; no hypoplastic nails; no hypoplastic nail fifth finger; no missing/hypoplastic phalanx toes; agenesis corpus callosum; colpocephaly; autism; strabismus 1 1 Gijs Santen
00047954 Pat2;Pat102:Pat37;Pat373 PubMed: Santen 2012, PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - Netherlands - - - - - CSS birth 40w;severe intellectual disability; severe speech delay; coarse facial features; thick eyebrows; low frontal hairline; hypertrichosis; joint laxity; brachydactyly; brachydactyly fifth finger; no hypoplastic nails; hypoplastic nail fifth finger; missing/hypoplastic phalanx toes; partial agenesis corpus callosum; fetal finger pads 1 1 Gijs Santen
00047955 Pat3;Pat103;Pat49;Pat348 PubMed: Santen 2012, PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - Netherlands - - - - - CSS birth 39w; moderate intellectual disability; severe speech delay; coarse facial features; thick eyebrows; low frontal hairline; hypertrichosis; no joint laxity; no brachydactyly; no brachydactyly fifth finger; no hypoplastic nails; hypoplastic nail fifth finger; missing/hypoplastic phalanx toes; agenesis corpus callosum; colpocephaly; strabismus 1 1 Gijs Santen
00047956 Pat4 PubMed: Santen 2012 - F - Netherlands - - - - - ID birth 39w+4;severe intellectual disability; no speech; coarse facial features; thick eyebrows; no low frontal hairline; no hypertrichosis; no joint laxity; no brachydactyly; no brachydactyly fifth finger; hypoplastic nails; no hypoplastic nail fifth finger; atrial septum defect; sparse hair; no nail growth; unilateral single palmar crease; 4y-nephrocalcinosis 1 1 Gijs Santen
00047957 Pat5;Pat341 PubMed: Santen 2012, van der Sluijs 2024 (submitted) - M - Netherlands - - - - - ID birth at termsevere intellectual disability; no speech; coarse facial features; thick eyebrows; no low frontal hairline; no hypertrichosis; joint laxity; no brachydactyly; no brachydactyly fifth finger; no hypoplastic nails; no hypoplastic nail fifth finger; anal atresia; double ureters 1 1 Gijs Santen
00047958 Pat6 PubMed: Santen 2012 - F - Netherlands - - - - - ID birth 41w+1; moderate intellectual disability; moderate speech delay; no coarse facial features; thick eyebrows; low frontal hairline; no hypertrichosis; no brachydactyly; no brachydactyly fifth finger; no hypoplastic nails; no hypoplastic nail fifth finger; agenesis corpus callosum; pectus excavatum; abnormal palmar creases; striped toe nails 1 1 Gijs Santen
00047963 Pat1;Pat1;Pat14 PubMed: Tsurusaki 2012, PubMed: Tsurusaki 2014, PubMed: van der Sluijs 2019 - - - Japan - - - - - CSS - 1 1 Global Variome, with Curator vacancy
00047964 Pat15;Pat15;Pat15 PubMed: Tsurusaki 2012, PubMed: Tsurusaki 2014, PubMed: van der Sluijs 2019 - - - Japan - - - - - CSS - 1 1 Global Variome, with Curator vacancy
00047965 Pat23;Pat23;Pat16 PubMed: Tsurusaki 2012, PubMed: Tsurusaki 2014, PubMed: van der Sluijs 2019 - - - Japan - - - - - CSS - 1 1 Global Variome, with Curator vacancy
00047966 Pat10;Pat10;Pat17 PubMed: Tsurusaki 2012, PubMed: Tsurusaki 2014, PubMed: van der Sluijs 2019 - - - Japan - - - - - CSS - 2 1 Gijs Santen
00047967 Pat1 PubMed: Hoyer 2012 - F - (Germany) - - - - - ID see paper; ..., severe developmental delay; no speech; 28m-walk; muscular hypotonia; MRI brain retrocerebellar cyst; no seizures; no hearing loss; no heart malformation; no cleft palate; plagiocephaly, frontal bossing; low-set and/or posteriorly rotated ears; abnormally shaped ears; downslanting palpebral fissures; strabism; bulbous nasal tip; no thin upper lip; normal teeth; retro/micrognathia; normal hands/feet; clitoris hypertrophy and long philtrum 1 1 Global Variome, with Curator vacancy
00047968 Pat2 PubMed: Hoyer 2012 - F - - - - - - - ID see paper; ..., moderate developmental delay; 3-4y-first words, 4y11m-sentences; 24m-walk; muscular hypotonia; MRI brain delayed myelination; no seizures; no hearing loss; heart malformation; no cleft palate, high palate; plagiocephaly, frontal bossing; low-set and/or posteriorly rotated ears; abnormally shaped ears; no downslanting palpebral fissures; strabism; bulbous nasal tip; thin upper lip; small and pointed teeth; retro/micrognathia; single palmar creases and brachydactyly V; ataxic gait, sparse hair, sacral dimple, and three hemangiomas 1 1 Global Variome, with Curator vacancy
00047969 Pat3 PubMed: Hoyer 2012 - M - (Germany) - - - - - ID see paper; ..., severe developmental delay; single words; 20m-walk; muscular hypotonia; no seizures; no hearing loss; no heart malformation; no cleft palate; prominent forehead; low-set and/or posteriorly rotated ears; abnormally shaped ears; downslanting palpebral fissures; no strabism; no bulbous nasal tip; thin upper lip; pointed teeth; no retro/micrognathia; brachydactyly; allergy, recurrent infections, autistic features, and aggression 1 1 Global Variome, with Curator vacancy
00047970 Pat4;Pat679 PubMed: Hoyer 2012, van der Sluijs 2024 (submitted) - M - (Germany) - - - - - ID see paper; ..., moderate developmental delay (IQ50); no speech; walks; muscular hypotonia; MRI brain nromal; no seizures; no hearing loss; atrial septum defect; cleft palate; normal shape head; no low-set or posteriorly rotated ears; abnormally shaped ears; downslanting palpebral fissures; strabism; bulbous nasal tip; thin upper lip; small teeth; no retro/micrognathia; single palmar creases, sandal gaps, hypoplastic nails; cryptorchism and myopia 1 1 Global Variome, with Curator vacancy
00047971 Pat5;Pat680 PubMed: Hoyer 2012, van der Sluijs 2024 (submitted) - F - (Germany) - - - - - ID see paper; ..., severe developmental delay; >5y-first words, 12ytwo-word sentences at 12 years; 27m-walk; muscular hypotonia; MRI brain nromal; singular seizure; unilateral hearing loss; no heart malformation; cleft palate; brachycephaly, low forehead; low-set and/or posteriorly rotated ears; abnormally shaped ears; downslanting palpebral fissures; no strabism; mild bulbous nasal tip; thin upper lip; first teeth small and widely spaced; no retro/micrognathia; sandal gaps, clinodactyly V, and hypoplastic toe nails V; allergy, myopia, megaureter, wide mouth, dry hair, and hypothyreosis 1 1 Global Variome, with Curator vacancy
00047972 Pat6 PubMed: Hoyer 2012 - F - (Germany) - - - - - ID see paper; ..., mild/moderate developmental delay; 24m-speech corresponding to 17m; 24m-walk; muscular hypotonia; MRI brain nromal; no seizures; no hearing loss; no heart malformation; no cleft palate; frontal bossing; low-set and/or posteriorly rotated ears; normal ears; no downslanting palpebral fissures; no strabism; mild bulbous nasal tip; thin upper lip; normal teeth; retro/micrognathia; long toes; hypertrichosis and myopia 1 1 Global Variome, with Curator vacancy
00047973 Pat7 PubMed: Hoyer 2012 - F - (Germany) - - - - - ID see paper; ..., moderate/severe developmental delay; single words; 24m-walk; muscular hypotonia; MRI brain asymmetric calvaria; singular seizure; no hearing loss; no heart malformation; no cleft palate, high palate; low forehead; low-set and/or posteriorly rotated ears; abnormally shaped ears; no downslanting palpebral fissures; no strabism; bulbous nasal tip; no thin upper lip; small teeth; no retro/micrognathia; normal hands/feet; hypertrichosis 1 1 Global Variome, with Curator vacancy
00047974 Pat8 PubMed: Hoyer 2012 - M - (Germany) - - - - - ID see paper; ..., moderate developmental delay; short sentences, sufficient working vocabulary; 18m-walk; no muscular hypotonia; seizures; no hearing loss; no heart malformation; no cleft palate; normal shape head; low-set and/or posteriorly rotated ears; normal ears; no downslanting palpebral fissures; no strabism; no bulbous nasal tip; no thin upper lip; malocclusion, delayed second dentition; retro/micrognathia; normal hands/feet; myopia, skin hypopigmentation, and hypertelorism 1 1 Global Variome, with Curator vacancy
00047975 Pat9;Pat430 PubMed: Hoyer 2012, van der Sluijs 2024 (submitted) - M - (Germany) - - - - - ID see paper; ..., moderate developmental delay; delayed speech; 20m-walk; no muscular hypotonia; MRI brain nromal; no seizures; no hearing loss; no heart malformation; no cleft palate; brachycephaly; low-set and/or posteriorly rotated ears; abnormally shaped ears; no downslanting palpebral fissures; no strabism; no bulbous nasal tip; thin upper lip; no retro/micrognathia; single palmar creases, clinodactyly V, deep set thumbs, Hallux valgus; unilateral myopia, blocked nasolacrimal duct, dermoid cyst, atlanto/occipital abnormalities, discreet rhizomelic shortening of arms and legs, scoliosis, cryptorchism 1 1 Global Variome, with Curator vacancy
00048004 - - - F no Estonia - - - - - CSS extreme obesity, macrocephaly, hepatomegaly, hyperinsulinism, polycystic ovarian syndrome 1 1 Margit Noukas
00048005 patient;Pat103;Pat414 PubMed: Sonmez 2016, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - M yes Turkey Turkey - - - - CSS 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 1 1 Eyyup Uctepe
00050368 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? muscular hypotonia, recurrent respiratory infections, slow-growing hair, widely spaced primary teeth, weak cry, abnormality of the mouth, abnormal facial shape 1 1 Johan den Dunnen
00050371 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? agenesis of corpus callosum, intellectual disability mild, severe expressive language delay, joint hypermobility, conspicuously happy disposition, optic nerve coloboma, stereotypic behavior 1 1 Johan den Dunnen
00050424 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, agenesis of corpus callosum, persistence of primary teeth, laryngomalacia, febrile seizures, brachycephaly, clinodactyly of the 5th finger, localized hirsutism, autism, thoracic platyspondyly, hypopigmentation of the skin 1 1 Johan den Dunnen
00050456 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, thick lower lip vermilion, wide mouth, micrognathia, small nail, plagiocephaly 1 1 Johan den Dunnen
00050504 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? abnormality of the corpus callosum, intestinal malrotation, tracheomalacia, hypertelorism, global developmental delay, hyperactivity, hypertrichosis 1 1 Johan den Dunnen
00050532 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? agenesis of corpus callosum, polyphagia, mild short stature, drooling, delayed speech and language development, motor delay, localized hirsutism, long eyelashes 1 1 Johan den Dunnen
00050550 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child F - United Kingdom (Great Britain) - - - Decipher - ? laryngomalacia, gastroesophageal reflux, intellectual disability severe, absent speech, pes planus, abnormality of the nose, muscular hypotonia of the trunk, bruxism, truncal ataxia, recurrent hand flapping 2 2 Johan den Dunnen
00050564 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? micrognathia, high palate, kyphoscoliosis, short neck, hypertrichosis, abnormality of the nares, long philtrum, anterior creases of earlobe, global developmental delay, intellectual disability mild, pigmented nevi, generalized hypotonia, low anterior hairline 1 1 Johan den Dunnen
00050642 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - ? delayed speech and language development, motor delay, delayed speech and language development, epicanthus 1 2 Johan den Dunnen
00050689 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? obesity, global developmental delay, abnormal facial shape, hypoplastic toenails, hyperlordosis, autism 1 1 Johan den Dunnen
00050692 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? macrocephaly, global developmental delay, downslanted palpebral fissures, low anterior hairline, sacral hypertrichosis 1 1 Johan den Dunnen
00056412 K2437;Pat50 PubMed: Wieczorek 2013, PubMed: van der Sluijs 2019 - F no - - - - - - CSS 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; 1 1 Eline van der Sluijs
00056413 K2574;Pat51 PubMed: Wieczorek 2013, PubMed: van der Sluijs 2019 - F no - - - - - - CSS 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 1 1 Eline van der Sluijs
00056414 K2434;Pat52 PubMed: Wieczorek 2013, PubMed: van der Sluijs 2019 - M yes - - - - - - CSS 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; 1 1 Eline van der Sluijs
00056415 K2441;Pat53 PubMed: Wieczorek 2013, PubMed: van der Sluijs 2019 - M no - - - - - - CSS 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 1 1 Eline van der Sluijs
00056416 K2474;Pat54 PubMed: Wieczorek 2013, PubMed: van der Sluijs 2019 - M no - - - - - - CSS 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; 1 1 Eline van der Sluijs
00056417 K2471;Pat55 PubMed: Wieczorek 2013, PubMed: van der Sluijs 2019 - M no - - - - - - CSS 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 1 1 Eline van der Sluijs
00056418 K2445;Pat56 PubMed: Wieczorek 2013, PubMed: van der Sluijs 2019 - F yes - - - - - - CSS 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; 1 1 Eline van der Sluijs
00056419 K2444;Pat57 PubMed: Wieczorek 2013, PubMed: van der Sluijs 2019 - F no - - - - - - CSS 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; 1 1 Eline van der Sluijs
00056420 K2439;Pat58 PubMed: Wieczorek 2013, PubMed: van der Sluijs 2019 - F no - - - - - - CSS 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; 1 1 Eline van der Sluijs
00056421 - PubMed: Wieczorek 2013 - M no - - - - - - CSS 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 1 1 Eline van der Sluijs
00056422 K2578;Pat60 PubMed: Wieczorek 2013, PubMed: van der Sluijs 2019 - M no - - - - - - CSS 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; 1 1 Eline van der Sluijs
00056423 K2583;Pat61 PubMed: Wieczorek 2013, PubMed: van der Sluijs 2019 - M ? - - - - - - CSS 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; 1 1 Eline van der Sluijs
00056424 K2443;Pat62 PubMed: Wieczorek 2013, PubMed: van der Sluijs 2019 - M yes - - - - - - CSS 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; 1 1 Eline van der Sluijs
00056425 K2693;Pat63 PubMed: Wieczorek 2013, PubMed: van der Sluijs 2019 - M no - - - - - - CSS 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; 1 1 Eline van der Sluijs
00056426 K2428;Pat64 PubMed: Wieczorek 2013, PubMed: van der Sluijs 2019 - M no - - - - - - CSS see paper; ..., birth 39w; intellectual disability; 9m-sit, 34m-walk; no speech, still babblingm-first words; hypotonia; no seizures; no vision problem; no hearing loss; frequent infections, sinopulmonary; feeding problems; no behavioural anomalies; coarse face; no low frontal hairline; no synophrys; no thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; flat nasal bridge; broad nasal tip; no upturned nasal tip; thick, anteverted alae nasi; large mouth; no thin upper vermillion; no thick lower vermillion; no macroglossia; no short philtrum; long philtrum; abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; short metacarpals/metatarsals IV-V; no prominent interphalangeal joints; no prominent distal phalanges; sandal gap; no spinal anomalies; no scoliosis; cryptorchidism; AVSD, secundum ASD; no body hirsutism; increased skin wrinkling hands; fetal finger pads; sparse scalp hair; no nail a/hypoplasia; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum; umbilical hernia, nephrolithiasis 1 1 Eline van der Sluijs
00056427 K2438;Pat65 PubMed: Wieczorek 2013, PubMed: van der Sluijs 2019 - M no - - - - - - CSS see paper; ..., birth 42w; intellectual disability; 31m-walk; 65m-first words; hypotonia; no seizures; no vision problem; no hearing loss; no frequent infections; feeding problems; rigid behavior; coarse face; no synophrys; thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; no flat nasal bridge; no broad nose; upturned nasal tip; thick, anteverted alae nasi; large mouth; no thin upper vermillion; thick lower vermillion; macroglossia; no short philtrum; no long philtrum; no abnormal ears; no cleft palate; generally short distal phalanges; no short metacarpals/metatarsals; no prominent interphalangeal joints; no prominent distal phalanges; no sandal gap; no spinal anomalies; delayed bone age; no scoliosis; no cryptorchidism; ASD; 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; normal corpus callosum; 1 1 Eline van der Sluijs
00063276 Pat38;Pat68 PubMed: Tsurusaki 2014, PubMed: van der Sluijs 2019 - - - Japan - - - - - CSS - 1 1 Eline van der Sluijs
00063278 Pat28;Pat21 PubMed: Tsurusaki 2014, PubMed: van der Sluijs 2019 - - - Japan - - - - - CSS - 1 1 Eline van der Sluijs
00063279 Pat40 PubMed: Tsurusaki 2014 - - - Japan - - - - - CSS - 1 1 Eline van der Sluijs
00063280 Pat61;Pat71 PubMed: Tsurusaki 2014, PubMed: van der Sluijs 2019 - - - Japan - - - - - CSS - 1 1 Eline van der Sluijs
00063281 Pat75;Pat74 PubMed: Tsurusaki 2014, PubMed: van der Sluijs 2019 - - - Japan - - - - - CSS - 1 1 Eline van der Sluijs
00063283 Pat53 PubMed: Tsurusaki 2014 - - - Japan - - - - - CSS - 1 1 Eline van der Sluijs
00063285 Pat74;Pat73 PubMed: Tsurusaki 2014, PubMed: van der Sluijs 2019 - - - Japan - - - - - CSS - 1 1 Eline van der Sluijs
00063286 Pat56 PubMed: Tsurusaki 2014 - - - Japan - - - - - CSS - 1 1 Eline van der Sluijs
00063288 Pat69;Pat72 PubMed: Tsurusaki 2014, PubMed: van der Sluijs 2019 - - - Japan - - - - - CSS - 1 1 Eline van der Sluijs
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.