MASA syndrome
ORPHA:2466· ICD-10 G11.4
Definition
A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.
- Prevalence
- Unknown
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal