X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance

Term ID

DOID:0080311

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. https://www.ncbi.nlm.nih.gov/pubmed/16158428

References

• MIM:300486

Ontology

Human Disease   ( DOID:0080311 )