autosomal recessive intellectual developmental disorder 3

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13.

Signs and symptoms

• Delayed speech and language development
• Global developmental delay
• Short attention span
• Hyperactivity
• Incomprehensible speech
• Severe intellectual disability
• Hypomimic face
• Progressive microcephaly