Intellectual disability-epilepsy-extrapyramidal syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-epilepsy-extrapyramidal syndrome | |
| fr | Syndrome extrapyramidal-déficience intellectuelle-épilepsie | |
| de | Intelligenzminderung-Epilepsie-extrapyramidale Störung-Syndrom | |
| es | Síndrome extrapiramidal-discapacidad intelectual-epilepsia | |
| it | Sindrome disabilità intellettiva-epilessia-sintomi extrapiramidali | |
| nl | Intellectuele achterstand - epilepsie - extrapiramidaal-syndroom | |
| pt | Síndrome extrapiramidal-perturbação do desenvolvimento intelectual-epilepsia | |
| pl | Niepełnosprawność intelektualna-padaczka-zespół pozapiramidowy | |
| cs | Syndrom zahrnující mentální retardaci, epilepsii a extrapyramidové symptomy | |
| uk | Інтелектуальна недостатність - епілепсія - екстрапірамідний синдром | |
| zh | 智力障碍-癫痫-锥体束外综合征 | |
| tr | Zihinsel yetersizlik-epilepsi-ekstrapiramidal sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617171 | E | validated | |
| ICD-10 | G93.8 | NTBT | attributed | validated |
| MONDO | 0014952 | E | validated | |
| UMLS | C5568848 | E | validated | |
| GARD | 13474 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DEAF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:14677 | ENSG00000177030 | 602635 | 11p15.5 | DEAF1 transcription factor | 26048982[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 26048982[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26048982[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
30 annotations · validated 2020-01-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0410263 | Brain imaging abnormality | |
| HP:0002019 | Constipation | |
| HP:0001249 | Intellectual disability | |
| HP:0000817 | Reduced eye contact | |
| HP:0011344 | Severe global developmental delay | |
| HP:0002360 | Sleep abnormality | |
| Frequent (79-30%) | ||
| HP:0010832 | Abnormality of pain sensation | |
| HP:0000718 | Aggressive behavior | |
| HP:0000717 | Autism | |
| HP:0002136 | Broad-based gait | |
| HP:0002376 | Developmental regression | |
| HP:0000712 | Emotional lability | |
| HP:0011968 | Feeding difficulties | |
| HP:0008947 | Floppy infant | |
| HP:0002066 | Gait ataxia | |
| HP:0000252 | Microcephaly | |
| HP:0002719 | Recurrent infections | |
| HP:0030051 | Tip-toe gait | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0000713 | Agitation | |
| HP:0000729 | Autistic behavior | |
| HP:0002312 | Clumsiness | |
| HP:0002307 | Drooling | |
| HP:0002141 | Gait imbalance | |
| HP:0004305 | Involuntary movements | |
| HP:0000256 | Macrocephaly | |
| HP:0001250 | Seizure | |
| HP:0002133 | Status epilepticus | |
| HP:0002317 | Unsteady gait | |
| HP:0002515 | Waddling gait | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 30923367[PMID]_26048982[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/468620
- This record as JSON: /data/d/468620.json