autosomal dominant intellectual developmental disorder 5

info · Genetic

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32.

Signs and symptoms

Moderate intellectual disability
Global developmental delay
Hypotonia
Motor delay
Seizure
EEG abnormality
Language impairment
Developmental regression
Epileptic encephalopathy
Intellectual disability

Also known as: MRD5; autosomal dominant mental retardation 5; autosomal dominant non-syndromic intellectual disability 5