| Metadata | |
|---|---|
| ID | DOID:0080311 |
| Name | X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance |
| Definition | A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene. https://www.ncbi.nlm.nih.gov/pubmed/16158428 |
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