X-linked intellectual disability-ataxia-apraxia syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- historical
A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-ataxia-apraxia syndrome | |
| fr | Syndrome d'ataxie-apraxie-déficience intellectuelle lié à l'X | |
| de | X-chromosomale Intelligenzminderung-Ataxie-Apraxie-Syndrom | |
| es | Síndrome de discapacidad intelectual-ataxia-apraxia ligado al cromosoma X | |
| it | Sindrome disabilità intellettiva-atassia-aprassia legata all'X | |
| nl | X-gebonden intellectuele achterstand - ataxie - apraxie-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-ataxia-apraxia ligada ao X | |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X - ataksja - apraksja | |
| cs | X-vázaný syndrom zahrnující mentální retardaci, ataxii a apraxii | |
| uk | Синдром Х-зчепленої розумової відсталостї-атаксії-апраксії | |
| zh | X连锁智力障碍-共济失调-失用症 | |
| tr | X'e bağlı zihinsel yetersizlik-ataksi-apraksi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | index | validated |
| MONDO | 0019430 | E | validated | |
| UMLS | C4305139 | 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 (2):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:247765X-linked cerebellar ataxia
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 1605232[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1605232[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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002186 | Apraxia | |
| HP:0001251 | Ataxia | |
| HP:0001256 | Intellectual disability, mild | |
| Frequent (79-30%) | ||
| HP:0001250 | Seizure | |
| HP:0001762 | Talipes equinovarus | |
Annotation source: 1605232[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85338
- This record as JSON: /data/d/85338.json