Metadata | |
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ID | DOID:0080233 |
Name | autosomal dominant intellectual developmental disorder 50 |
Definition | An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31. https://pubmed.ncbi.nlm.nih.gov/28191889/ |
Xrefs | |
Synonyms |
autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities [EXACT] autosomal dominant mental retardation 50 [EXACT] |
Parent Relationships |