primary autosomal recessive microcephaly 29

A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_b

A primary autosomal recessive microcephaly that is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the PDCD6IP gene on chromosome 3p22.

Signs and symptoms

• Strabismus
• Thick eyebrow
• Seizure
• Deeply set eye
• Global developmental delay
• Primary microcephaly
• Emotional lability
• Hyperactivity
• Intellectual disability
• Hypoplastic philtrum