primary autosomal recessive microcephaly 30

A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous

A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13.

Signs and symptoms

• Secundum atrial septal defect
• Cerebral cortical atrophy
• Primary microcephaly
• Ventriculomegaly
• Tracheal stenosis
• Intellectual disability
• Epicanthus
• Choanal stenosis
• Inguinal hernia
• Cleft soft palate