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Metadata
ID	DOID:0070408
Name	Hengel-Maroofian-Schols syndrome
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. https://pubmed.ncbi.nlm.nih.gov/34022130/
Xrefs	MIM:619641
Parent Relationships	is_a syndrome is_a autosomal recessive disease