| Metadata | |
|---|---|
| ID | DOID:0070686 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070686 Copy |
| Name | X-linked congenital 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. https://pmc.ncbi.nlm.nih.gov/articles/PMC10913327/, https://pubmed.ncbi.nlm.nih.gov/1303258/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:71779008 |
| SKOS |
exactMatch ORDO:2182 exactMatch MESH:C536078 exactMatch GARD:434 exactMatch UMLS_CUI:C0265216 exactMatch MIM:307000 |
| Subsets |
DO_rare_slim |
| Synonyms |
X-linked hydrocephalus [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |