| 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 ) |