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autosomal dominant intellectual developmental disorder 5
Summary
- Synonym
-
- MRD5
- autosomal dominant mental retardation 5
- autosomal dominant non-syndromic intellectual disability 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.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0070035
- Mondo Disease Ontology
- OMIM
Related Genes
