ORPHA:93947
X-linked intellectual disability, Golabi-Ito-Hall type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Golabi-Ito-Hall type | |
| fr | Déficience intellectuelle liée à l'X type Golabi-Ito-Hall | |
| de | Intelligenzminderung, X-chromosomale, Typ Golabi-Ito-Hall | Golabi-Ito-Hall-Syndrom |
| es | Discapacidad intelectual ligada al cromosoma X tipo Golabi-Ito-Hall | |
| it | Disabilità intellettiva legata all'X, tipo Golabi-Ito-Hall | |
| nl | X-gebonden intellectuele achterstand, Golabi-Ito-Hall-type | |
| pt | Perturbação do desenvolvimento intelectual ligado ao X, tipo Golabi-Ito-Hall | |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Golabi, Ito i Hall | |
| cs | X-vázaná mentální retardace, Golabiové-Itoové-Hallův typ | X-vázaná mentální retardace, Golabi-Ito-Hallův typ |
| uk | Х-зчеплена розумова відсталість, тип Голабі-Іто-Холл | |
| zh | X-连锁智力障碍，Golabi-Ito-Hall型 | |
| tr | X'e bağlı zihinsel yetersizlik, Golabi-Ito-Hall tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309500 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0019768 | E | validated | |
| UMLS | C5681614 | 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:3242Renpenning syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PQBP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9330 | ENSG00000102103 | 300463 | Xp11.23 | polyglutamine binding protein 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000378 | Cupped ear | |
| HP:0001510 | Growth delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000276 | Long face | |
| HP:0000158 | Macroglossia | |
| HP:0000252 | Microcephaly | |
| HP:0000275 | Narrow face | |
| HP:0000411 | Protruding ear | |
| HP:0004322 | Short stature | |
| HP:0000325 | Triangular face | |
| HP:0000582 | Upslanted palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0002299 | Brittle hair | |
| HP:0011359 | Dry hair | |
| HP:0000286 | Epicanthus | |
| HP:0008404 | Nail dystrophy | |
| HP:0001264 | Spastic diplegia | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0001250 | Seizure | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 16740914[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93947
- This record as JSON: /data/d/93947.json