Term Name:	Birk-Barel syndrome
Synonyms:	Birk-Barel mental retardation dysmorphism syndrome
Definition:	A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24.
Ontology:	Human Disease [DOID:0050675]   ( DOID:0050675 )