Billuart-type X-linked syndromic intellectual developmental disorder

Term ID

DOID:0080311

Synonyms

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

Definition

A syndromic X-linked intellectual disability characterized by moderately to severely impaired intellectual development, cerebellar hypoplasia, and seizures that has_material_basis_in mutation in the oligophrenin-1 gene on chromosome Xq12. (2)

References

• MIM:300486

Ontology

Human Disease   ( DOID:0080311 )