Term Name:	Hengel-Maroofian-Schols syndrome
Synonyms:
Definition:	A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23.
Ontology:	Human Disease [DOID:0070408]   ( DOID:0070408 )