| Metadata | |
|---|---|
| ID | DOID:0060807 |
| Name | syndromic X-linked intellectual disability Najm type |
| Definition | A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11. https://www.ncbi.nlm.nih.gov/pubmed/19165920, https://www.ncbi.nlm.nih.gov/pubmed/21954287 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
mental retardation and microcephaly with pontine and cerebellar hypoplasia [EXACT] MICPCH [EXACT] X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome [EXACT] |
| Parent Relationships |