Hydrocephalus, X-linked [Supplementary Concept]
The most common inherited (X-linked recessive) form of hydrocephalus. It is characterized by enlarged CEREBRAL VENTRICLES and INTELLECTUAL DISABILITY, and often includes SPASTIC PARAPARESIS and adducted thumbs. The most severe cases die pre- or perinatally with gross hydrocephalus and enlarged head circumference. Mutations in the L1CAM gene have been identified. OMIM: 307000
Date introduced: August 25, 2010
MeSH Unique ID: C536078
Heading Mapped to:
Entry Terms:
- HSAS1 Hydrocephalus due to congenital stenosis of aqueduct of sylvius 1
- Aqueductal stenosis, X-linked
- Hydrocephalus due to congenital stenosis of aqueduct of sylvius