OBO ID: DOID:0070058
Term Name: Helsmoortel-Van Der Aa Syndrome Search Ontology:
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 )
OTHER Helsmoortel-Van Der Aa Syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ADNP Helsmoortel-van der Aa syndrome 615873
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None