Term Name: | X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080311] ( DOID:0080311 ) |