X-linked intellectual disability, Stoll type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Stoll type | |
| fr | Déficience intellectuelle liée à l'X type Stoll | |
| de | Intelligenzminderung, X-chromosomale, Typ Stoll | |
| es | Discapacidad intelectual ligada al cromosoma X tipo Stoll | |
| it | Disabilità intellettiva legata all'X, tipo Stoll | |
| nl | X-gebonden intellectuele achterstand, Stoll-type | |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Stoll | |
| pl | Niepełnosprawność intelektualna typu Stolla sprzężona z chromosomem X | |
| cs | X-vázaná mentální retardace, Stollův typ | |
| uk | Х-зчеплена розумова відсталість, тип Штолля | |
| zh | X连锁智力障碍，Stoll型 | |
| tr | X'e bağlı zihinsel yetersizlik, Stoll tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0019423 | E | validated | |
| UMLS | C4305075 | 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 | 4 cases | Worldwide | Case(s) | Validated | 1877628[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1877628[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 2019-08-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0000455 | Broad nasal tip | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0005281 | Hypoplastic nasal bridge | |
| HP:0001249 | Intellectual disability | |
| HP:0002003 | Large forehead | |
| HP:0000343 | Long philtrum | |
| HP:0000272 | Malar flattening | |
| HP:0004322 | Short stature | |
| HP:0000349 | Widow's peak | |
Annotation source: 1877628[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85326
- This record as JSON: /data/d/85326.json