neurodevelopmental disorder with dysmorphic facies and thin corpus callosum

An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_ba

An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2.

Signs and symptoms

• Intellectual disability
• Delayed speech and language development
• Global developmental delay
• Delayed gross motor development
• Sleep disturbance
• Absent speech
• Feeding difficulties
• Autistic behavior
• Thin corpus callosum
• Chronic constipation

Also known as: NEDDFAC