Hengel-Maroofian-Schols syndrome

Term ID

DOID:0070408

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. https://pubmed.ncbi.nlm.nih.gov/34022130/

References

• OMIM:619641

Ontology

Human Disease   ( DOID:0070408 )