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Hengel-Maroofian-Schols syndrome
Summary
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0070408
- Mondo Disease Ontology
- OMIM
