primary autosomal recessive microcephaly 21

A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NCAPD2 gene on chromosome 12p13.

Signs and symptoms

• Sloping forehead
• Absent speech
• Moderate intellectual disability
• Short stature
• Small for gestational age
• Autistic behavior
• Primary microcephaly