X-linked intellectual disability, Stocco dos Santos type
MONDO:0010325Mondo
Findings
No curated finding names X-linked intellectual disability, Stocco dos Santos type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Congenital bilateral hip dislocationHPOHP:0008780
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- HirsutismHPOHP:0001007
- Frequent (30% to 79% of cases)
- HyperactivityHPOHP:0000752
- Frequent (30% to 79% of cases)
- KyphosisHPOHP:0002808
- Frequent (30% to 79% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Small for gestational ageHPOHP:0001518
- Frequent (30% to 79% of cases)
Show the remaining 5
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- Talipes equinovarusHPOHP:0001762
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- Increased serum serotoninHPOHP:0003144
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SHROOM4HGNC:29215
- Supportive · Orphanet · X-linked · 2021
- Limited · Labcorp Genetics (formerly Invitae) · X-linked · 2021
Where it sits
Other names
1 name
Resolves to: X-linked intellectual disability, Stocco dos Santos type
- Also called
- intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type