Phenotypes for disease #06961 (del 1p36 (chromosome deletion syndrome 1p36, distal), OMIM:607872)

Legend

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

Diagnosis/Initial: initial diagnosis, before molecular testing

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

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

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

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

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

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

Age/Diagnosis: age diagnosis was confirmed

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

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

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

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

How to query this table

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

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

Some more advanced examples:

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

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

31 entries on 1 page. Showing entries 1 - 31.

Legend

How to query

Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Owner	Individual ID
0000308025	1p36 deletion syndrome	-	severe intellectual disability, hypotonia, feeding difficulty; cortical dysplasia, enlarged lateral ventricles, hypoplastic corpus callosum; patent ductus arteriosus, ventricular septal defect; hearing loss; cleft lip and palate; dislocated hip	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00416258
0000308026	1p36 deletion syndrome	-	trichotillomania, bruxism; infantile spasms	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00416259
0000308027	1p36 deletion syndrome	-	severe intellectual disability, hypotonia, feeding difficulty, temper tantrums; seizures; patent ductus arteriosus; nystagmus; hearing loss; cleft lip and palate; late closing anterior fontanelle, straight eyebrows; dental anomalies, hypothyroidism, constipation, ambiguous genitalia	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00416260
0000308028	1p36 deletion syndrome	-	severe intellectual disability, hypotonia, feeding problems; seizures, infantile spasms; cortical hypoplasia, enlarged lateral ventricles, delayed myelination; ventricular septal defect, aortic stenosis; nystagmus; hearing loss; high palate; microcephaly, deeply set eyes, epicanthal folds, low-set ears, broad nasal root/bridge; ambiguous genetalia, cryptoorchidism, scrotal hypoplasia	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00416261
0000308029	1p36 deletion syndrome	-	severe intellectual disability severe, hypotonia, feeding difficulty, poor social interaction; enlarged lateral ventricels; ventricular septal defect; left ventricular non-compaction; strabismus, ametropia, oculomotor disturbance; high palate; limb deformity	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00416262
0000308030	1p36 deletion syndrome	-	developmental delay, hypotonia, ; single febrile seizure; enlarged lateral and third ventricles, bilateral colpocephaly, moderate to severe non-obstructive hydrocephalus; atrial septal defect,ventricular septal defect, patent ductus arteriosus, distal aortic arch hypoplastic; sensorineural hearing loss; submucosal cleft palate, velapharyngeal incompetence; prominent occiput, high forehead, large anterior fontanel, flat facial profile, deeply set eyes, narrow palpebral fissures, abnoramal, low-set, posteriorly-rotated ears, small nose, broad nasal root, micrognathia, left single palmar crease, short femurs; hypothyroidism, severe gastroesophageal reflux, decreased ossification of the skull and cervical spine, left pes cavus, calcaneovalgus deformity	Isolated (sporadic)	2y6m	-	-	-	Johan den Dunnen	00416263
0000308031	1p36 deletion syndrome	-	developmental delay; partial seizures, infantile spasms; cerebral malformations, agenesis of the corpus callosum, ventriculomegaly; atrial septal defect, ventricular septal defect; bilateral pupillary coloboma; deeply set eyes, low-set, posteriorly-rotated ears, brachydactyly, hirsuitism	Isolated (sporadic)	8y	-	-	-	Johan den Dunnen	00416264
0000308032	1p36 deletion syndrome	-	severe iintellectual disability, hypotonia, feeding difficulty; seizures; ebstein anomaly; microphthalmia; hearing loss; high palate; microcephaly, brachycephaly, straight eyebrows, deeply set eyes, epicanthal folds, low-set ears, broad nasal root/bridge, long philtrum, pointed chin; atresia of exterenal acoustic foramen	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00416265
0000308033	1p36 deletion syndrome	-	developmental delay, hypotonia; atrial septal defect; left ventricular non-compaction; deeply set eyes, microcephaly	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00416266
0000308034	1p36 deletion syndrome	-	; ventriculomegaly, marked pachygyria, absent septum pellucidum, thinned corpus callosum; tetralogy of Fallot; deeply set eyes, small palpebral fissures, low-set ears with thickened helices, camptodactyly, joint contractures, pointed chin; intestinal obstruction with suspected deudenal atresia	Isolated (sporadic)	2d	-	-	-	Johan den Dunnen	00416267
0000308035	1p36 deletion syndrome	-	severe intellectual disability severe, hypotonia, feeding difficulty; seizures; enlarged lateral venticles, hypoplastic corpus callosum; ventricular septal defect; nystagmus; microcephaly, deeply set eyes, low-set ears, broad nasal root/bridge, pointed chin; scoliosis, nasal cavity stenosis	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00416268
0000308036	1p36 deletion syndrome	-	hypotonia, feeding difficulties; seizures; enlarged lateral ventricles, delayed mylenation, hypoplastic corpus callosum; atrial septal defect, patent ductus arteriosus, ventricular septal defect, pulmonary stenosis, ebstein anomaly; ametropia; microcephaly, brachycephaly, epicanthal folds, low-set ears, broad nasal root/bridge; scoliosis	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00416269
0000308037	1p36 deletion syndrome	-	intellectual disability, spasticity, dysphagia; seizures; cardiomyopathy; myopia; sensorineural hearing loss; abnormality of midface, gingival overgrowth	Isolated (sporadic)	8y	-	-	-	Johan den Dunnen	00416270
0000308038	1p36 deletion syndrome	-	intellectual disability, developmental delay, feeding difficultites; intractable seizure disorder; patent ductus arteriosus; stones (medication related?); high compound myopic astigmatism, mild ptosis, occasional nystagmus; ears are low-set; brachycephaly, deeply set eyes, narrow palate, small hands and feet, joint contractures, low posterior hairline, hirsutism; short stature, central obesity, liver nodules, precoious puberty, premature ovarian failure, scoliosis	Isolated (sporadic)	30y	-	-	-	Johan den Dunnen	00416271
0000308039	1p36 deletion syndrome	-	feeding difficulty; patent ductus arteriosus, ventricular septal defect; microcephaly, hypertelorism, prominent ears, depressed/flat nasal bridge, short neck, wide-spaced nipples, sacral dimple/sinus, proximally-set halluces; hiatal hernia	Isolated (sporadic)	1m	-	-	-	Johan den Dunnen	00416272
0000308040	1p36 deletion syndrome	-	hypotonia; atrial septal defect, patent ductus arteriosus, ventricular septal defect, cleft mitral valve, redundant tricuspid valve leaflets, mild pulmonary valve stenosis; severe biventricular hypertrophy; sensorineural hearing loss; bilateral cleft lip and palate; microcephaly, prominence of forehead and perietal bones, broad face, hypertelorism, epicanthal folds, bushy, arched eyebrows, posteriorly rotated ears, wide nose with a split appearance to the tip, digital contractures, hirsutism; bilateral nasolacrimal duct obstruction, gastroesophageal reflux	Isolated (sporadic)	2m	-	-	-	Johan den Dunnen	00416273
0000308041	1p36 deletion syndrome	-	intellectual disability, developmental delay; ventricular septal defect; cardiomyopathy, transient heart failure; ptosis; microcephaly, hirsutism	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00416274
0000308042	1p36 deletion syndrome	-	severe intellectual disability, speech delay, ataxia, abnormal gait,; seizures; microcephaly; proportionate short stature, enlarged joints, joint stiffness/arthiritis/gout, hyperkeratosis, hyphydrotic or dry skin, erythema	Isolated (sporadic)	15y8m	-	-	-	Johan den Dunnen	00416275
0000308043	1p36 deletion syndrome	-	intelleculal disability, developmental delay, feeding difficulty, ataxic unsteady gait with frequent falls, hypertonia, severe hyperactivity; tonic clonic seizures; partial anomalous pulmonary venous return with the left pulmonary veins draining into the innominate vein, wolf-parkinson-white; right-sided ptosis; microcephaly, midface hypoplasia, bushy eyebrows, long eyelashes, downslanting palpebral fissures, borderline low-set ears, depressed nasal bridge, prominent mandible, pointy chin, hirsutism; prenatal short stature, failure to thrive, hemivertebra at T9	Isolated (sporadic)	6y	-	-	-	Johan den Dunnen	00416276
0000308044	1p36 deletion syndrome	-	intelectual disability; facial abnormalities	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00416277
0000308045	1p36 deletion syndrome	-	intelectual disability, developmental delay, feeding difficulty; secundum atrial septal defect; submucous cleft of the hard palate; microcephaly, mid-face retrusion, hypertelorism, prominent ears, down-turned corners of mouth, thick upper lip vermillion, thin lower lip vermillion; scoliosis	Isolated (sporadic)	5y	-	-	-	Johan den Dunnen	00416278
0000308046	1p36 deletion syndrome	-	developmental delay, peripheral hypertonia; generalized tonic clonic seizures; enlarged cerebrospinal fluid spaces; two small right coronary artery fistulae terminating in the left atrium and right ventricle; microcephaly, prominent forehead, hypertelorism, epicanthal folds, high arched eyebrows, synophrys, long eyelashes, posteriorly rotated ears, overfolded helices, upturned nose, short neck, bilateral fifth finger clinodactyly, hirsuitims; gastroesophageal reflux	Isolated (sporadic)	14m	-	-	-	Johan den Dunnen	00416279
0000308047	1p36 deletion syndrome	-	intellectual diability	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00416280
0000308048	1p36 deletion syndrome	-	intelectual disability; microcephaly, abnormality of the face, abnormal hair pattern; cryptorchidism	Isolated (sporadic)	12y	-	-	-	Johan den Dunnen	00416281
0000308049	1p36 deletion syndrome	-	severe intellectual disability severe, hypotonia, feeding difficulty; patent ductus arteriosus; strabismus; high palate; microcephaly, brachycephaly, epicanthal folds, low-set ears, broad nasal root/bridge; scoliosis	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00416282
0000308050	1p36 deletion syndrome	-	developmental delay, ataxia, dyspraxia, wide-based gait; Brown syndrome, amblyopia	Isolated (sporadic)	5y	-	-	-	Johan den Dunnen	00416283
0000308051	1p36 deletion syndrome	-	intelectual disability, speech delay; microcephaly, localized hirsutism; abnormal stomach	Isolated (sporadic)	<1y	-	-	-	Johan den Dunnen	00416284
0000308052	1p36 deletion syndrome	-	developmental delay, intellectual diability, feeding difficulty; mild pulmonary valve stenosis; sensorineural hearing loss; brachycephaly, flat occiput, mid-face retrusion, long eyelashes, prominent ear helix, flat nose, wide nasal bridge, hypoplastic philtrum, thin upper lip vermilion, abonormal mouth, broad thumbs, short phalanges, coarse hair, abnormal hair pattern, low posterior hairline; laryngomalacia, recurrent infections, cryptorchidism, proportionate short stature	Isolated (sporadic)	19y	-	-	-	Johan den Dunnen	00416285
0000308053	1p36 deletion syndrome	-	intelectual disability, speech delay; abnormal hair pattern; recurrent infections	Isolated (sporadic)	3y	-	-	-	Johan den Dunnen	00416286
0000308054	1p36 deletion syndrome	-	developmental delay, hypotonia; small septum secundum atrial septal defect, perimembranous ventricular septal defect; dilated cardiomyopathy; frontal and parietal bossing, mild bitemporal narrowing, broad arched eyebrows with sparse appearance, short palpebral fissures, protruding ears, broad nasal bridge, mildly anteverted small nares, broad columella, smooth philtrum, bowed upper lip, high arched palate, prominent chin, short sternum, second and fifth digits with mild bilateral clinodactyly, short digits with mild bulbous finger tips, hirsutism; failure to thrive	Isolated (sporadic)	5y	-	-	-	Johan den Dunnen	00416287
0000308055	1p36 deletion syndrome	-	ventricular septal defect; microcephaly	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00416288

Legend

How to query

Global Variome shared LOVD