autosomal dominant intellectual developmental disorder 38

info · Genetic

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33.

Signs and symptoms

Epicanthus
Tented upper lip vermilion
Sleep disturbance
Severe intellectual disability
Aggressive behavior
Downturned corners of mouth
Microcephaly
Generalized neonatal hypotonia
Cerebral atrophy
Absent speech

Also known as: MRD38; PRELDS; autosomal dominant mental retardation 38; autosomal dominant non-syndromic intellectual disability 38; psychomotor retardation, epilepsy, and language disability syndrome