ORPHA:404481
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome | |
| fr | Syndrome d'ataxie cérébelleuse autosomique récessive-épilepsie-déficience intellectuelle | |
| de | Autosomal-rezessive zerebelläre Ataxie-Epilepsie-Intelligenzminderung-Syndrom | |
| es | Síndrome de ataxia cerebelosa-epilepsia-discapacidad intelectual autosómico recesivo | |
| it | Sindrome atassia cerebellare autosomica recessiva-epilessia-disabilità intellettiva | |
| nl | Autosomaal recessieve cerebellaire ataxie - epilepsie - intellectuele achterstand-syndroom | |
| pt | Síndrome de ataxia cerebelosa-epilepsia-perturbação do desenvolvimento intelectual autossómica recessiva | |
| pl | Zespół autosomalna recesywna ataksja móżdźkowa-padaczka-niepełnosprawność intelektualna | |
| cs | Syndromy zahrnující autozomálně recesivní cerebelární ataxii, epilepsii a mentální retardaci | |
| uk | Аутосомно-рецесивний синдром мозочкової атаксії-епілепсії-інтелектуальної недостатності | |
| zh | 常染色体隐性遗传小脑共济失调-癫痫-智力障碍综合征 | |
| tr | Otozomal resesif serebellar ataksi-epilepsi-zihinsel yetersizlik sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018446 | E | validated | |
| MONDO | 18446 | E | validated | |
| UMLS | C5681145 | 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 (3):
- ORPHA:1172Autosomal recessive cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
Children (3):
- ORPHA:404499Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
- ORPHA:404493Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
- ORPHA:284282Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
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Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/404481
- This record as JSON: /data/d/404481.json