X-linked intellectual disability, Abidi type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Abidi type | |
| fr | Déficience intellectuelle liée à l'X type Abidi | |
| de | Intelligenzminderung, X-chromosomale, Typ Abidi | |
| es | Discapacidad intelectual ligada al cromosoma X tipo Abidi | |
| it | Ritardo mentale legato all'X, tipo Abidi | |
| nl | X-gebonden intellectuele achterstand, Abidi-type | |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Abidi | |
| pl | Niepełnosprawność intelektualna typu Abidi sprzężona z chromosomem X | |
| cs | X-vázaná mentální retardace, typ Abidiové | |
| uk | Х-зчеплена розумова відсталість, тип Абіді | |
| zh | X连锁智力障碍，Abidi型 | |
| tr | X'e bağlı zihinsel yetersizlik, Abidi tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300262 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010285 | E | validated | |
| MeSH | C535556 | E | validated | |
| UMLS | C4305021 | E | validated | |
| GARD | 9157 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; 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 | 8 cases | Worldwide | Case(s) | Validated | 10398233[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10398233[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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008734 | Decreased testicular size | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| HP:0000340 | Sloping forehead | |
| Frequent (79-30%) | ||
| HP:0000365 | Hearing impairment | |
| Occasional (29-5%) | ||
| HP:0000175 | Cleft palate | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0000767 | Pectus excavatum | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000411 | Protruding ear | |
| HP:0002650 | Scoliosis | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85273
- This record as JSON: /data/d/85273.json