MED23

Disease Overview

MED23 is a gene that plays a role in brain development.
Mutations in MED23 cause difficulty swallowing, screaming spells,
reflux, and gastrointestinal problems in infants. Children with MED23
gene mutations have profound learning and developmental delays
impairing muscle control, mobility, communication, and speech.  MED23 gene mutations do
not cause changes in growth or physical appearance. MED23 is inherited
in an autosomal recessive fashion.

Synonyms

• Intellectual disability, autosomal recessive 18
• Autosomal recessive nonsyndromic mental retardation-18