Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0070058 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models