ORPHA:2076
X-linked intellectual disability-epilepsy syndrome
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- X-linked dominant, X-linked recessive
- Age of onset
- Childhood
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-epilepsy syndrome | |
| fr | Epilepsie-déficience intellectuelle liée à l'X | |
| de | X-chromosomale Intelligenzminderung-Epilepsie-Syndrom | |
| es | Síndrome de discapacidad intelectual-epilepsia ligado al cromosoma X | |
| it | Sindrome disabilità intellettiva legata all'X-epilessia | |
| nl | X-gebonden intellectuele achterstand - epilepsie-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-epilepsia ligada ao X | |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X - padaczka | |
| cs | Syndrom zahrnující X-vázanou mentální retardaci a epilepsii | |
| uk | Х-зчеплений синдром інтелектуальної недостатності та епілепсії | |
| zh | X-连锁智力残疾-癫痫综合征 | |
| tr | X'e bağlı zihinsel yetersizlik-epilepsi sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300088 | BTNT | validated | |
| OMIM | 300423 | BTNT | validated | |
| OMIM | 300607 | BTNT | validated | |
| MONDO | 0016160 | E | validated | |
| MONDO | 16160 | E | validated | |
| UMLS | C5680771 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- 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
Codes that Orphanet moved or referred to this one:
- ORPHA:93951OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
6
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/2076
- This record as JSON: /data/d/2076.json