Metadata | |
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ID | DOID:0070073 |
Name | autosomal dominant intellectual developmental disorder 43 |
Definition | An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. https://www.ncbi.nlm.nih.gov/pubmed/27003583 |
Xrefs | |
Synonyms |
autosomal dominant mental retardation 43 [EXACT] autosomal dominant non-syndromic intellectual disability 43 [EXACT] MRD43 [EXACT] |
Parent Relationships |