MeSH Browser

MeSH Supplementary: Hydrocephalus, X-linked
Unique ID: C536078
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536078
Entry Term(s): Aqueductal stenosis, X-linked; HSAS1 Hydrocephalus due to congenital stenosis of aqueduct of sylvius 1; Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Registry Numbers: 0
Heading Mapped to: Cerebral Aqueduct / abnormalities; *Hydrocephalus; *Genetic Diseases, X-Linked
Frequency: 36
Note: 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 of Entry: 2010/08/25
Revision Date: 2019/06/19

Hydrocephalus, X-linked MeSH Supplementary Concept Data 2025