neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies

An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in hom

An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13.

Signs and symptoms

• Intellectual disability
• Failure to thrive
• Esotropia
• Epicanthus
• Upslanted palpebral fissure
• Strabismus
• Short stature
• Agenesis of corpus callosum
• Prominent forehead
• Depressed nasal bridge

Also known as: autosomal recessive mental retardation 36