X-linked intellectual disability, Stocco Dos Santos type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the <i>KIAA1202</i> gene, localised to the Xp11.2 region.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Stocco Dos Santos type | |
| fr | Déficience intellectuelle liée à l'X type Stocco Dos Santos | |
| de | Intelligenzminderung, X-chromosomale, Typ Stocco Dos Santos | |
| es | Discapacidad intelectual ligada al cromosoma X tipo Stocco Dos Santos | |
| it | Disabilità intellettiva legata all'X, tipo Stocco Dos Santos | |
| nl | X-gebonden intellectuele achterstand, Stocco Dos Santos-type | |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Stocco Dos Santos | |
| pl | Niepełnosprawność intelektualna typu Stocco Dos Santos sprzężona z chromosomem X | |
| cs | X-vázaná mentální retardace, Stocco Dos Santosové typ | |
| uk | Х-зчеплена розумова відсталість, тип Стокко Дос Сантос | |
| zh | X连锁智力障碍，Stocco Dos Santos型 | |
| tr | X'e bağlı zihinsel yetersizlik, Stocco Dos Santos tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300434 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010325 | E | validated | |
| UMLS | C4305076 | E | validated | |
| GARD | 1133 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SHROOM4 | Disease-causing germline mutation(s) in | Assessed | HGNC:29215 | ENSG00000158352 | 300579 | Xp11.22 | shroom family member 4 | 16249884[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 2063914[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2063914[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
17 annotations · validated 2019-08-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008780 | Congenital bilateral hip dislocation | |
| HP:0000750 | Delayed speech and language development | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000286 | Epicanthus | |
| HP:0001007 | Hirsutism | |
| HP:0000752 | Hyperactivity | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002808 | Kyphosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0001518 | Small for gestational age | |
| HP:0000486 | Strabismus | |
| HP:0001762 | Talipes equinovarus | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0000518 | Cataract | |
| HP:0003144 | Increased serum serotonin | |
Annotation source: 2063914[PMID]_12673656[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85288
- This record as JSON: /data/d/85288.json