" /> Hydrocephalus, congenital, X-linked - CISMeF





Preferred Label : Hydrocephalus, congenital, X-linked;

Symbol : HYCX;

CISMeF acronym : HSAS; HSAS1; HYCX; XLAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hydrocephalus, X-linked; Aqueductal stenosis, X-linked; HSAS1; HSAS; XLAS; Hydrocephalus due to congenital stenosis of aqueduct of sylvius;

Description : The X-linked recessive form of congenital hydrocephalus (HSAS) is the most common of the inherited forms of hydrocephalus. The phenotype consists of enlarged cerebral ventricles and mental retardation, and often includes spastic paraparesis and adducted thumbs. The most severe cases die pre- or perinatally with gross hydrocephalus and enlarged head circumference (Rosenthal et al., 1992). See HYC1 (236600) for a discussion of nonsyndromic autosomal recessive forms of hydrocephalus.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the L1 cell adhesion molecule gene (L1CAM, 308840.0001);

Prefixed ID : #307000;

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27/07/2025


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