Human genes for X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance [DOID:0080311]
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.
Synonyms: X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, DOID:0080311, Xlinked mental retardation with cerebellar hypoplasia and distinctive facial appearance, X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearances