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Metadata
ID DOID:0070058
Name Helsmoortel-Van Der Aa Syndrome
Definition An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ADNP on chromosome 20q13.13.
https://www.ncbi.nlm.nih.gov/pubmed/24531329
Xrefs

OMIM:615873

Synonyms

autosomal dominant mental retardation 28 [EXACT]

HVDAS [EXACT]

MRD28 [EXACT]

Parent Relationships

is_a autosomal dominant non-syndromic intellectual disability

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