Metadata | |
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ID | DOID:0070035 |
Name | autosomal dominant intellectual developmental disorder 5 |
Definition | An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. https://www.ncbi.nlm.nih.gov/pubmed/19196676 |
Xrefs | |
Synonyms |
autosomal dominant mental retardation 5 [EXACT] autosomal dominant non-syndromic intellectual disability 5 [EXACT] MRD5 [EXACT] |
Parent Relationships |