X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
ORPHA:2958· ICD-10 Q87.8
Definition
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Childhood