ORPHA:363528
Intellectual disability-strabismus syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-strabismus syndrome | |
| fr | Syndrome de déficience intellectuelle-strabisme | |
| de | Intelligenzminderung-Strabismus-Syndrom | |
| es | Síndrome de discapacidad intelectual-estrabismo | |
| it | Sindrome deficit cognitivo-strabismo | |
| nl | Intellectuele achterstand - strabisme-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-estrabismo | |
| pl | Zespół niepełnosprawność intelektualna-zez | |
| cs | Syndrom zahrnující mentální retardaci a strabismus | |
| uk | Синдром косоокості з інтелектуальною недостатністю | |
| zh | 智力障碍-斜视综合征 | |
| tr | Zihinsel yetersizlik-şaşılık sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615286 | E | validated | |
| ICD-10 | H50.8 | NTBT | attributed | validated |
| MONDO | 0014119 | E | validated | |
| UMLS | C4750838 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADAT3 | Disease-causing germline mutation(s) in | Assessed | HGNC:25151 | ENSG00000213638 | 615302 | 19p13.3 | adenosine deaminase tRNA specific 3 | 23620220[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 34 cases | Worldwide | Case(s) | Validated | 23620220[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
72 annotations · validated 2019-11-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001508 | Failure to thrive | |
| HP:0001249 | Intellectual disability | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0012443 | Abnormality of brain morphology | |
| HP:0000750 | Delayed speech and language development | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000286 | Epicanthus | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0000252 | Microcephaly | |
| HP:0011220 | Prominent forehead | |
| HP:0004322 | Short stature | |
| HP:0001257 | Spasticity | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0001771 | Achilles tendon contracture | |
| HP:0000718 | Aggressive behavior | |
| HP:0001631 | Atrial septal defect | |
| HP:0012444 | Brain atrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0012448 | Delayed myelination | |
| HP:0007162 | Diffuse demyelination of the cerebral white matter | |
| HP:0000324 | Facial asymmetry | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000365 | Hearing impairment | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000752 | Hyperactivity | |
| HP:0000316 | Hypertelorism | |
| HP:0000966 | Hypohidrosis | |
| HP:0000047 | Hypospadias | |
| HP:0100710 | Impulsivity | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000276 | Long face | |
| HP:0000369 | Low-set ears | |
| HP:0000400 | Macrotia | |
| HP:0012408 | Medullary nephrocalcinosis | |
| HP:0000347 | Micrognathia | |
| HP:0000054 | Micropenis | |
| HP:0000418 | Narrow nasal ridge | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001357 | Plagiocephaly | |
| HP:0001561 | Polyhydramnios | |
| HP:0000448 | Prominent nose | |
| HP:0031123 | Recurrent gastroenteritis | |
| HP:0000403 | Recurrent otitis media | |
| HP:0001838 | Rocker bottom foot | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0000340 | Sloping forehead | |
| HP:0000664 | Synophrys | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000506 | Telecanthus | |
| HP:0012471 | Thick vermilion border | |
| HP:0000154 | Wide mouth | |
| Very rare (<4-1%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0100702 | Arachnoid cyst | |
| HP:0012450 | Chronic constipation | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0005879 | Congenital finger flexion contractures | |
| HP:0011968 | Feeding difficulties | |
| HP:0001288 | Gait disturbance | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000821 | Hypothyroidism | |
| HP:0009473 | Joint contracture of the hand | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002172 | Postural instability | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 26842963[PMID]_23620220[PMID]_31687266[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363528
- This record as JSON: /data/d/363528.json