neurodevelopmental disorder with poor growth and behavioral abnormalities

An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short att

An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13.

Signs and symptoms

• Hypotonia
• Gastroesophageal reflux
• Receptive language delay
• Motor delay
• Failure to thrive
• Smooth philtrum
• Aggressive behavior
• Motor stereotypy
• Short attention span
• Thin upper lip vermilion