Schuurs-Hoeijmakers Syndrome

Term ID

DOID:0070047

Synonyms

• autosomal dominant mental retardation 17
• MRD17
• SHMS

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. https://www.ncbi.nlm.nih.gov/pubmed/26842493

References

• OMIM:615009

Ontology

Human Disease   ( DOID:0070047 )