Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive disorder caused by mutation(s) in the ADAT3 gene, encoding probable inactive tRNA-specific adenosine deaminase-like protein 3. It is characterized by a neurodevelopmental disorder with brain abnormalities, poor growth, and abnormal facies.

**Synonyms:** - Intellectual Disability-Strabismus Syndrome - NEDBGF