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Metadata
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

MIM:612621

Synonyms

autosomal dominant mental retardation 5 [EXACT]

autosomal dominant non-syndromic intellectual disability 5 [EXACT]

MRD5 [EXACT]

Parent Relationships

is_a autosomal dominant intellectual developmental disorder

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