Metadata | |
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ID | DOID:0070058 |
Name | Helsmoortel-Van Der Aa Syndrome |
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 |
Xrefs | |
Synonyms |
autosomal dominant mental retardation 28 [EXACT] HVDAS [EXACT] MRD28 [EXACT] |
Parent Relationships |