syndromic X-linked intellectual disability 12
Findings
No curated finding names syndromic X-linked intellectual disability 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked intellectual disability, Wilson type is characterized by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localized to the 11p region of the X chromosome.
Definition from the Mondo Disease Ontology (MONDO:0010658), read 2026-09-29. CC BY 4.0.
Features
16 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.
- Abnormal position of hair whorlHPOHP:0010814
- Frequent (30% to 79% of cases)
- BrachycephalyHPOHP:0000248
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- Mandibular prognathiaHPOHP:0000303
- Frequent (30% to 79% of cases)
- MutismHPOHP:0002300
- Frequent (30% to 79% of cases)
- Recurrent infectionsHPOHP:0002719
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
Show the remaining 4
- Hydrocele testisHPOHP:0000034
- Occasional (5% to 29% of cases)
- Inguinal herniaHPOHP:0000023
- Occasional (5% to 29% of cases)
- Lateral ventricle dilatationHPOHP:0006956
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
Where it sits
Other names
4 names
Resolves to: syndromic X-linked intellectual disability 12
- Also called
- intellectual disability, X-linked, syndromic 12mental retardation, X-linked, syndromic 12syndromic X-linked intellectual disability type 12X-linked intellectual disability, Wilson type