Term Name:	Billuart-type X-linked syndromic intellectual developmental disorder
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.
Ontology:	Human Disease [DOID:0080311]   ( DOID:0080311 )