Metadata | |
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ID | DOID:0080237 |
Name | autosomal dominant intellectual developmental disorder 46 |
Definition | An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. https://pubmed.ncbi.nlm.nih.gov/28669405/ |
Xrefs | |
Synonyms |
autosomal dominant mental retardation 46 [EXACT] |
Parent Relationships |