X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance (DOID:0080311)
Alliance: disease page
Alt IDs: OMIM:300486
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.