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X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
Summary
- 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.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0080311
- Mondo Disease Ontology
- OMIM
