Term Name: autosomal dominant intellectual developmental disorder 5
Synonyms: autosomal dominant mental retardation 5, autosomal dominant non-syndromic intellectual disability 5, MRD5
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32.
Ontology: Human Disease [DOID:0070035]   ( DOID:0070035 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder