X-linked intellectual disability, Stevenson type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
X-linked intellectual disability, Stevenson type is characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, <i>genu valgum</i>, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Stevenson type | |
| fr | Déficience intellectuelle liée à l'X type Stevenson | |
| de | Intelligenzminderung, X-chromosomale, Typ Stevenson | |
| es | Discapacidad intelectual ligada al cromosoma X tipo Stevenson | |
| it | Disabilità intellettiva legata all'X, tipo Stevenson | |
| nl | X-gebonden intellectuele achterstand, Stevenson-type | |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Stevenson | |
| pl | Niepełnosprawność intelektualna typu Stevensona sprzężona z chromosomem X | |
| cs | X-vázaná mentální retardace, Stevensonův typ | |
| uk | Х-зчеплена розумова відсталість, тип Стівенсона | |
| zh | X连锁智力障碍，Stevenson型 | |
| tr | X'e bağlı zihinsel yetersizlik, Stevenson 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 | 0019422 | E | validated | |
| UMLS | C4305077 | 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 | 9192265[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9192265[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
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0001999 | Abnormal facial shape | |
| HP:0001284 | Areflexia | |
| HP:0010761 | Broad columella | |
| HP:0002857 | Genu valgum | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001513 | Obesity | |
| HP:0100540 | Palpebral edema | |
| HP:0001182 | Tapered finger | |
| HP:0009928 | Thick nasal alae | |
| HP:0000391 | Thickened helices | |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0011968 | Feeding difficulties | |
| HP:0001176 | Large hands | |
| HP:0001833 | Long foot | |
| HP:0000691 | Microdontia | |
| HP:0000098 | Tall stature | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0000574 | Thick eyebrow | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 9192265[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85325
- This record as JSON: /data/d/85325.json