Phenotypes for disease #00139 (ID (intellectual disability (ID)))

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)

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

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

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

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

Age/Diagnosis: age diagnosis was confirmed

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

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

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

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

Protein: result from protein staining

How to query this table

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

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

Some more advanced examples:

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

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

2390 entries on 24 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Phenotype details	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000000778	Prader Willi-like syndrome	SHFYNG	Isolated (sporadic)	neonatal hypotonia with poor suck, feeding problems, excessive weight gain, hyperphagia, developmental delay, intellectual disability, facial dysmorphia, hypogonadism, eye abnormalities, speech articulation defects, sleep apnea, autism spectrum disorde	08y	-	-	-	-	Christian Schaaf	00001608
0000000779	Prader Willi-like syndrome	SHFYNG	Isolated (sporadic)	feeding problems, excessive weight gain, developmental delay, intellectual disability, hypogonadism, infantile lethargy, short stature, eye abnormalities, behavioral issues, speech articulation deficits, skin picking, autism spectrum disorder, contractures of the distal interphalangeal joints	05y	-	-	-	-	Christian Schaaf	00001609
0000000780	Prader Willi-like syndrome	SHFYNG	Isolated (sporadic)	neonatal hypotonia with poor suck, feeding problems, hyperphagia, developmental delay, intellectual disability, infantile lethargy, short stature, small hands, narrow hands, behavioral issues, speech articulation deficits, skin picking, sleep apnea, autism spectrum disorder, contractures of the distal interphalangeal joints	19y	-	-	-	-	Christian Schaaf	00001610
0000001391	-	-	Isolated (sporadic)	early-onset epileptic encephalopathy	12y	-	-	-	-	Hirotomo Saitsu	00002414
0000001392	-	-	Isolated (sporadic)	early-onset epileptic encephalopathy	08y	-	-	-	-	Hirotomo Saitsu	00002413
0000001393	-	-	Isolated (sporadic)	early-onset West syndrome	10y	-	-	-	-	Hirotomo Saitsu	00002415
0000001907	-	-	Familial, autosomal recessive	complete azospermia, strabismus	-	-	-	-	-	Farzaneh Larti	00003059
0000002886	-	-	Familial, X-linked recessive	agenesis of corpus callosum, aplasia/hypoplasia of the cerebellum, microcephaly, ichthyosis	-	-	-	-	-	Pamela Magini	00004117
0000010344	-	-	Familial, autosomal recessive	sever ID; normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, no drooling, wheelchair bound, no foot deformity, head circumference -2.5SD, reduced height, no epilipsy, no sphincter control, normal eye, normal hearing, overweight; 2.5y walk independently	23y	-	-	-	-	Johan den Dunnen	00011649
0000010345	-	-	Familial, autosomal recessive	severe ID; no normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, no Babinski sign, spasticity, no drooling, ambulant, no foot deformity, head circumference -2.5SD, reduced height, no epilipsy, no sphincter control, normal eye, normal hearing, overweight; 2.5y walk independently	15y	-	-	-	-	Johan den Dunnen	00011650
0000010346	-	-	Familial, autosomal recessive	severe ID; no normal speech, stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, drooling, wheelchair bound, no foot deformity, head circumference -3SD, reduced height, no epilipsy, no sphincter control, normal eye, normal hearing, normal weight; 2.5y walk independently	11y	-	-	-	-	Johan den Dunnen	00011651
0000010347	-	-	Familial, autosomal recessive	severe ID; no normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, spasticity, drooling, not ambulant, foot deformity, head circumference -1SD, height 145cm, no epilepsy, sphincter control, normal eye, normal hearing, no overweight; 2y walk independently	22y	-	-	-	-	Johan den Dunnen	00011652
0000010348	-	-	Familial, autosomal recessive	severe ID; no normal speech, stereotypic laughter, shy character, progressing to hypertonia, no spasticity, drooling, not ambulant, foot deformity, head circumference -4SD, height 130cm, no epilipsy, sphincter control, normal eye, normal hearing, no overweight; 2y walk independently	20y	-	-	-	-	Johan den Dunnen	00011653
0000010349	-	-	Familial, autosomal recessive	severe ID; no normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, spasticity, drooling, not ambulant, foot deformity, head circumference -2SD, height 140cm, no epilipsy, sphincter control, amblyopia, normal hearing, no overweight; 2.5y walk independently	18y	-	-	-	-	Johan den Dunnen	00011654
0000010350	-	-	Familial, autosomal recessive	severe ID; no normal speech, no stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, spasticity, no drooling, not ambulant (crawling), never walked independently, foot deformity, head circumference -3SD, height 125cm, no epilipsy, sphincter control, normal eye, normal hearing, no overweight	11y	-	-	-	-	Johan den Dunnen	00011655
0000010351	-	-	Familial, autosomal recessive	severe ID; no normal speech, stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, spasticity, no drooling, not ambulant (crawling), never walked independently, foot deformity, head circumference -4SD, height 105cm, epilepsy, no sphincter control, normal eye, normal hearing, no overweight	06y	-	-	-	-	Johan den Dunnen	00011656
0000010352	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00011657
0000010353	-	-	Familial, autosomal recessive	severe ID; no normal speech, stereotypic laughter, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, drooling, not walking independently, not ambulant, head circumference -3SD, epilepsy, no sphincter control, normal eye, normal hearing	23y	-	-	-	-	Johan den Dunnen	00011659
0000010354	-	-	Familial, autosomal recessive	severe ID; no normal speech, stereotypic laughter, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, drooling, not walking independently, not ambulant, head circumference -3SD, epilepsy, no sphincter control, normal eye, normal hearing	22y	-	-	-	-	Johan den Dunnen	00011660
0000014798	-	-	Familial, autosomal dominant	autism spectrum disorder, anxiety disorder, dysthymia, borderline intellectual functioning (IQ 75)	10y	-	-	-	-	Christian Schaaf	00016126
0000014892	Prader-Willi like syndrome	SHFYNG	Isolated (sporadic)	acc. Patak-31397880 neonatal hypotonia with poor suck, excessive weight gain, developmental delay, intellectual disability, hypogonadism, infantile lethargy, autism spectrum disorder	13y	-	-	-	-	Christian Schaaf	00001234
0000014898	-	-	Familial, autosomal recessive	cranio-lenticulo-sutural dysplasia (CLSD) and congenital disorders of glycosylation (CDG)-II	-	-	-	-	-	Swati Gupta	00016306
0000014947	intellectual disability	-	Isolated (sporadic)	see paper; ...	-	-	-	-	-	Alexander Zink	00016308
0000014948	intellectual disability	-	Isolated (sporadic)	see paper; ...	-	-	-	-	-	Alexander Zink	00016309
0000014964	-	-	Isolated (sporadic)	low birth weight <p3 microcephaly <p2 feeding difficulties Neurodevelopmental disorders intellectual disability/ development delay autism/autistic behavior sound sensitivity hyperactivity/ ADHD ptosis prominent nasal tip short filtrum micrognatia	24y	-	-	-	-	Gea Beunders	00016365
0000015219	-	-	Unknown	mild motor delay, no speech, severe ID, poor eyecontact, behavioral problems, autism, mood swings, fascinations, high pain threshold, abnormal walking pattern, thin and fair hair, straight eyebrows, full nasal tip, full lower lip, prominent chin, upslant, epicantic folds, fetal finger pads, Skin syndactyly in toes 2 and 3, Hyperlaxity, Recurrent infections in childhood, scrotal raphe, flat feet	09y	-	-	-	-	Marianne Vos (LOVD-team)	00016656
0000015245	intellectual disability	-	Familial, X-linked recessive	7y/3y; severe intellectual disability, microcephaly, short nasal septum	07y	-	-	-	-	Andreas Tzschach	00016842
0000015267	-	-	Familial, X-linked dominant	21m: developmental delay, aggressive behavior and hypotonia. Other features included relative macrocephaly, facial dysmorphism, broad thumbs and great toes, short stature, constipation and hyperextensibility of joints and skin.	01y09m	-	-	-	-	Marianne Vos (LOVD-team)	00016889
0000015268	-	-	Familial, X-linked recessive	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	09y	-	-	-	-	Marianne Vos (LOVD-team)	00016890
0000015269	-	-	Familial, X-linked dominant	3/3 mild/moderate ID, 1/3 obessiveness, 1/3 autism, 3/3 hypotonia,	?	-	-	-	-	Marianne Vos (LOVD-team)	00016891
0000015390	intellectual disability	-	Unknown	severely delayed psychomotor development, 25m-walking, no speech, microcephaly borderline short stature; 30y maternal uncle said microcephalic in childhood, OFC and height now 50th centile	03y	-	-	-	-	Andreas Tzschach	00016841
0000015393	intellectual disability	-	Familial, X-linked recessive	severe intellectual disability, secondary microcephaly, muscular hypotonia, epilepsy, strabismus, short nasal septum, agenesis gallbladder, 3y5m-deceased of respiratory infection; younger brother primary microcephaly, micropenis, cryptorchidism, severely delayed psychomotor development, gallbladder agenesis	03y	-	-	-	-	Andreas Tzschach	00016925
0000016179	-	-	Isolated (sporadic)	postnatal growth failure; severe developmental delay; long curved eyelashes, thin arched eyebrows, broad nasal bridge, thin arched upper lip;delayed closure of the fontanels, delayed bone age, broad great toes, mild pectus carinatum; pulmonary artery stenosis, atrial septal defect, prolonged QT interval; truncal hypotonia, hypertonia of extremities; MRI brain borderline normal ventricle; self-hugging, repetitive hand movements; no genital abnormalities	02y11m	-	-	-	-	Bernt Popp	00016948
0000016180	-	-	Isolated (sporadic)	postnatal growth failure; severe developmental delay; prominent forehead, deep set eyes, long eyelashes, down slanting palpebral fissures, large ears, diasthema; small hands/feet, high arched palate, wide interdental spaces; no cardiac abnormalities; hypoplastic scrotum; truncal hypotonia, hypertonia of extremities, generalized epileptiform activity; MRI brain enlarged ventricles, reduced periventricular volume, gliotic changes; hyperactivity, auto-aggressive behaviour, hand biting, autistic features	05y11m	-	-	-	-	Bernt Popp	00016949
0000016184	-	-	Isolated (sporadic)	see paper; moderate mental retaration, no seizures, EEG irregular slow dysrhythmia, behavioral anomalies, no MRI scan anomalies, no eye anomalies, no other anomalies	10y	-	-	-	-	Johan den Dunnen	00017830
0000016185	neurodevelopmental delay	-	Isolated (sporadic)	see paper; moderate intellectual disability, no microcephaly, no seizures, no EEG anomalies, behavioral anomalies (hyperactivity, short attention span, sleep disturbance, stereotypies, friendliness), MRI scan not performed, no facial dysmorphism, no eye anomalies, no other anomalies; 24m-walk; 28m-first words	14y08m	-	-	-	-	Johan den Dunnen	00017831
0000016186	neurodevelopmental delay	-	Isolated (sporadic)	see paper; no microcephaly, mild mental retardation, no seizures, no EEG anomalies, behavioral anomalies (short attention span, aggressiveness, stereotypies, friendliness), no MRI scan anomalies, no facial dysmorphism, no eye anomalies, no other abnormalities; 20m-walk; 18m-first words	14y06m	-	-	-	-	Johan den Dunnen	00017832
0000016187	-	-	Isolated (sporadic)	see paper; mild mental retardation, no microcephaly, no seizures, no EEG anomalies, behavioral anomalies, no MRI scan performed, no facial dysmorphism, no eye anomalies, hypothyroidism	41y	-	-	-	-	Johan den Dunnen	00017833
0000016188	-	-	Familial, autosomal dominant	see paper; learning difficulties, mild/moderate mental retardation, EEG anomalies, childhood seizures, etc.	04y	-	-	-	-	Johan den Dunnen	00017834
0000016189	-	-	Isolated (sporadic)	see paper; severe mental retardation, 3m-first seizure; epileptic spasms, myoclonies/frequent massive myoclonies until present; EEG anomalies slowing, bilateral independent posterior spikes, behavioral anomalies; muscle hypotonia; no MRI anomalies; no facial dysmorphism	03y	-	-	-	-	Johan den Dunnen	00017835
0000016197	-	-	Familial, X-linked recessive	see paper; PatII2 (30y) moderate ID, autistic-like behavior extraverted, aggressive, language/motor delay, large hands, big ears, long face, synophrys; PatII3 (43y) mild ID, no major behavioral problems, autistic-like behavior, language/motor delay, facial dysmorphism, big ears, round face, neurological examination normal; PatIII2 (female, 10y) ID needing special care	-	-	-	-	-	Pierre Billuart	00017841
0000016199	-	-	Familial, X-linked recessive	see paper; 9m-some delay motor development, 9m-sitting, 25m-walking; 27m speaks only three words, formal developmental testing confirmed delay, height 84 cm (below 3rd percentile), weight 12.7 kg (25th percentile), head circumference 48.4 cm (25th percentile), mild facial dysmorphism, prominent forehead, generalized joint hyperlaxity, normal male genitalia, skin significant eczema, brain MRI normal; mother learning difficulties, she attended special education; sister with learning difficulties	02y03m	-	-	-	-	Pierre Billuart	00017846
0000016204	-	-	Familial, X-linked recessive	see paper; PatII1 (deceased) moderate ID (IQ 36–51), gynecomastia, obesity, small testes, normal height (169 cm)/head circumference (54.5 cm), sexual deviant behavior (treated with anti-androgen medication and necessitating living in care); PatII2 (57y) mild ID, obesity, significant behavioral issues, normal head circumference, normal facial features, gynecomastia, normal hands and feet; mother I-2 phenotypically normal, normal height (153 cm)/head circumference (54.2 cm), low average intelligence	-	-	-	-	-	Pierre Billuart	00017851
0000017579	-	-	Isolated (sporadic)	developmental delay, no major dysmorphisms, no ocular anomalies, no pituitary deficiency	?	-	-	-	-	Marianne Vos (LOVD-team)	00019839
0000017580	-	-	Isolated (sporadic)	ID from infancy, regression at adult age; shows parkinsonism and dystonia	?	-	-	-	-	Marianne Vos (LOVD-team)	00019841
0000017591	-	-	Unknown	Severe ID with epilepsy. No speech. Short stature, microcephaly and enlarged ventricles and hypertrophy of the cerebellar vermis. Hypotonia, cleft palate, cataract, scoliosis and stereotypic movements. Dysmorphic features included a low frontal-temporal hairline, deep-set eyes, a flat midface, long narrow ears, a long nose with a high bridge, a short philtrum, an everted lower lip and a prominent jaw. In addition, she had scoliosis, short narrow hands, tapered fingers and several contractures.	?	-	-	-	-	Marianne Vos (LOVD-team)	00019859
0000017592	-	-	Unknown	neonatal feeding problems, hip dysplasia, ID (IQ 50), autism, epicanthic folds, straight eyebrows, posteriorly rotated ears and downturned corners of the mouth; MRI of brain not available; no epilepsy	?	-	-	-	-	Marianne Vos (LOVD-team)	00019861
0000017593	-	-	Isolated (sporadic)	brachycephaly, no high forehead, no bitemporal narrowing, horizontal eyebrows, weak upslanting of palpebral fissures, weak synophrys, no epicanthus, depressed nasal bridge, bulbous nasal tip, round face, no cupid-bow upper lip, thin vermilion border, prognathism, large ears/thickened helices; no open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; moderate intellectual disability/developmental delay; motor delay; severe speech impairment; hypotonia; ataxia/motor incoordination; no choreiform movements; no seizures; no brain anomalies; no microcephaly; no macrocephaly; cleft palate; club foot; ALL; hearing loss	08y	-	-	-	-	Giuseppe Marangi	00019865
0000017596	-	-	Isolated (sporadic)	brachycephaly, high forehead, bitemporal narrowing, horizontal eyebrows, upslanting of palpebral fissures, synophrys, epicanthus, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, prognathism, large ears/thickened helices; open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; developmental delay; motor delay; no motor delay; no severe speech impairment; no hypotonia; no ataxia/motor incoordination; no choreiform movements; no seizures; no brain anomalies; no microcephaly; no macrocephaly	03y	-	-	-	-	Giuseppe Marangi	00019867
0000017598	-	-	Isolated (sporadic)	no brachycephaly, high forehead, no bitemporal narrowing, no horizontal eyebrows, upslanting of palpebral fissures, synophrys, no epicanthus, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, prognathism, large ears/thickened helices; no open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; moderate intellectual disability/developmental delay; motor delay; no motor delay; no hypotonia; mild ataxia/motor incoordination; choreiform movements; seizures; brain anomalies; no brain anomalies; macrocephaly; central obesity; cubitus valgus	12y	-	-	-	-	Giuseppe Marangi	00019868
0000017599	-	-	Unknown	neonatal feeding problems and hypotonia, severe ID, macrocephaly, large cysterna magna, hydrocephalus, myelination delay and wide sulci. Seizures, self-mutilation and sleep disturbances. Facial dysmorphisms included hypertelorism, broad coarse face, low-set ears, macrostomia and mild retromicrognathia. She had small hands and feet, contractures and scoliosis.	?	-	-	-	-	Marianne Vos (LOVD-team)	00019869
0000017600	-	-	Unknown	feeding problems, epilepsy, IQ 50, small dysplastic low-set ears, a bulbous nasal tip a large mouth and a simean crease of his right hand	?	-	-	-	-	Marianne Vos (LOVD-team)	00019870
0000017610	-	-	Unknown	moderate-severe ID, primary macrocephaly, hearing loss due to otitis media. Strabismus. Autism, ADHD. Frontal bossing, deep-set eyes. Four teeth at 11 months of age.	-	-	-	-	-	Marianne Vos (LOVD-team)	00019888
0000017611	-	-	Isolated (sporadic)	ID (dyshormonic profile; performal IQ 50, verbal 90), hypotonia, no facial dysmorphisms, progressive scoliosis, hip dysplasia, fatigue problems.	-	-	-	-	-	Marianne Vos (LOVD-team)	00019889
0000017612	-	-	Unknown	Severe ID. Epilepsy (tonic-clonic seizures), myokymia. Normal height, head circumference -2 SD. Broad based walking pattern. Narrow long face, prominent supraorbital ridges, long nose and philtrum, thin upper lip, hypodontia, long fingers and toes and narrow thorax.	-	-	-	-	-	Marianne Vos (LOVD-team)	00019890
0000017613	-	-	Unknown	ID, no major dysmorphisms, no epilepsy, sleep disturbances, obsessive behaviour	-	-	-	-	-	Marianne Vos (LOVD-team)	00019891
0000017614	-	-	Unknown	Moderate ID, features of autism, anxiety, mood instability and aggressive outbursts. No evident dysmorphic features.	-	-	-	-	-	Marianne Vos (LOVD-team)	00019901
0000017685	-	-	Isolated (sporadic)	microcephaly (HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750)	13y	-	-	-	-	Marianne Vos (LOVD-team)	00019908
0000017686	-	-	Unknown	severe hypotonia, severe motor delay and speech delay, deficient gyration frontal region, mild periventricular white matter abnormalities	-	-	-	-	-	Marianne Vos (LOVD-team)	00019910
0000017687	-	-	Isolated (sporadic)	severe ID, severe epilepsy, Rett-like phenotype, motor handicap, severe feeding difficulties, progressive scoliosis	-	-	-	-	-	Marianne Vos (LOVD-team)	00019912
0000017693	-	-	Isolated (sporadic)	Developmental delay, absent speech, EEG anomalies, hypotonia, esotropia, hypertrichosis	04y	-	-	-	-	Giuseppe Marangi	00019920
0000017726	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019836
0000020224	-	-	Familial, autosomal recessive	Ataxia gait, nystagmus, ...	-	-	-	-	-	Behzad Davarnia	00024123
0000020226	-	-	Unknown	intellectual disability, minor dysmorphisms	-	-	-	-	-	Behzad Davarnia	00022445
0000020336	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019837
0000020337	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019838
0000020338	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019840
0000020339	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019858
0000020340	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019860
0000020341	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019862
0000020342	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019863
0000020343	-	-	Isolated (sporadic)	see paper; ..., severe intellectual disability (HP:0010864)	-	-	-	-	-	Johan den Dunnen	00019864
0000020344	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019886
0000020345	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019887
0000020346	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019892
0000020347	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019893
0000020348	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019894
0000020349	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019895
0000020350	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019896
0000020351	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019897
0000020352	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019898
0000020353	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019899
0000020354	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019900
0000020355	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019907
0000020356	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019911
0000020357	-	-	Unknown	severe ID, signs of autism, aggressive behavior, 2 café au lait spots, increased pain threshold	-	-	-	-	-	Johan den Dunnen	00024233
0000020358	-	-	Unknown	severe ID, epilepsy, cerebral atrophy without structural defects, short stature, head circumference -2 SD, hypotonic appearance, mild upslanting palpebral fissures, prominent philtrum; 16y-sudden unexplained death	-	-	-	-	-	Johan den Dunnen	00024234
0000020361	-	-	Unknown	severe ID, microcephaly, epilepsy, progressive spasticity, small hands/feet, poor vision	-	-	-	-	-	Johan den Dunnen	00024236
0000020362	-	-	Unknown	profound ID, microcephaly, short stature, vaginal atresia, unilateral renal agenesis, cortical blindness, evident dysmorphic features, small hands/feet	-	-	-	-	-	Johan den Dunnen	00024237
0000020363	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019913
0000020364	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00019906
0000020365	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00024235
0000020366	-	-	Unknown	-	-	-	-	-	-	Johan den Dunnen	00024238
0000020387	-	-	Isolated (sporadic)	mild intellectual disability, no epilepsy, CT-scan normal, neurological examination normal, no autism, severe language impairment	-	-	-	-	-	Johan den Dunnen	00024268
0000020388	-	-	Isolated (sporadic)	severe intellectual disability, no epilepsy, axial hypotonia/peripheral spasticity; MRI mild atrophy of the vermian region of cerebellum	-	-	-	-	-	Johan den Dunnen	00024269
0000020389	-	-	Isolated (sporadic)	moderate intellectual disability, no epilepsy, MRI normal, neurological examination normal	-	-	-	-	-	Johan den Dunnen	00024270
0000020390	-	-	Isolated (sporadic)	moderate intellectual disability, no epilepsy, CT-scan normal, neurological examination normal	-	-	-	-	-	Johan den Dunnen	00024271
0000020391	-	-	Isolated (sporadic)	severe intellectual disability, partial complex epilepsy, MRI normal, hypotonia	-	-	-	-	-	Johan den Dunnen	00024272
0000020392	-	-	Isolated (sporadic)	severe intellectual disability, no epilepsy, MRI normal, hypotonia	-	-	-	-	-	Johan den Dunnen	00024273
0000020393	-	-	Isolated (sporadic)	-	-	-	-	-	-	Johan den Dunnen	00024274

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

Global Variome shared LOVD

MUC7 (mucin 7, secreted)