Helsmoortel-Van Der Aa Syndrome

Term ID

DOID:0070058

Synonyms

• autosomal dominant mental retardation 28
• HVDAS
• MRD28

Definition

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13. https://www.ncbi.nlm.nih.gov/pubmed/24531329

References

• OMIM:615873

Ontology

Human Disease   ( DOID:0070058 )