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X-linked Hydrocephalus

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
Also Known As:
Hydrocephalus, X-linked; Aqueductal stenosis, X-linked; HSAS1 Hydrocephalus due to congenital stenosis of aqueduct of sylvius 1; Hydrocephalus due to congenital stenosis of aqueduct of sylvius
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