ORPHA:85290
X-linked intellectual disability, Wilson type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant, X-linked recessive
- Age of onset
- Childhood
- Status
- active
X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Wilson type | |
| fr | Déficience intellectuelle liée à l'X type Wilson | |
| de | Intelligenzminderung, X-chromosomale, Typ Wilson | |
| es | Discapacidad intelectual ligada al cromosoma X tipo Wilson | |
| it | Disabilità intellettiva legata all'X, tipo Wilson | |
| nl | X-gebonden intellectuele achterstand, Wilson-type | |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Wilson | |
| pl | Niepełnosprawność intelektualna typu Wilsona sprzężona z chromosomem X | |
| cs | X-vázaná mentální retardace, Wilsonův typ | |
| uk | Х-зчеплена розумова відсталість, тип Вільсона | |
| zh | X连锁智力障碍，Wilson 型 | |
| tr | X'e bağlı zihinsel yetersizlik, Wilson tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309545 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010658 | E | validated | |
| UMLS | C4305028 | 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 (1):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 1357179[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1357179[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.
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HPO phenotypes
16 annotations · validated 2019-08-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0010814 | Abnormal position of hair whorl | |
| HP:0000248 | Brachycephaly | |
| HP:0001510 | Growth delay | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000303 | Mandibular prognathia | |
| HP:0002300 | Mutism | |
| HP:0002719 | Recurrent infections | |
| HP:0001250 | Seizure | |
| HP:0000321 | Square face | |
| HP:0012471 | Thick vermilion border | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0012448 | Delayed myelination | |
| HP:0000034 | Hydrocele testis | |
| HP:0000023 | Inguinal hernia | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0000252 | Microcephaly | |
Annotation source: 1357179[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85290
- This record as JSON: /data/d/85290.json