primary autosomal recessive microcephaly 2 with or without cortical malformations

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13.

Signs and symptoms

• Sloping forehead
• Intellectual disability
• Microcephaly
• Global developmental delay
• Simplified gyral pattern
• Delayed speech and language development
• Severe intellectual disability
• Gray matter heterotopia
• Aggressive behavior
• Pachygyria

Also known as: MCPH2