Term Name: X-linked congenital hydrocephalus
Synonyms: X-linked hydrocephalus
Definition: A congenital hydrocephalus that has_material_basis_in homozygous mutation in the L1CAM gene on chromosome Xq28. Additional features include stenosis of the aqueduct of Sylvius, adducted thumbs, spastic paraparesis and impaired intellectual development.
Ontology: Human Disease [DOID:0070686]   ( DOID:0070686 )

Relationships
is a type of: congenital hydrocephalus X-linked recessive disease