primary autosomal recessive microcephaly 9

A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent eti

A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.

Signs and symptoms

• Impulsivity
• Microcephaly
• Aggressive behavior
• Self-injurious behavior
• Bimanual synkinesia
• Simplified gyral pattern
• Compulsive behaviors
• Motor tics
• Seizure

Also known as: MCPH9