autosomal dominant primary microcephaly 27

A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and

A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13.

Signs and symptoms

• Delayed speech and language development
• Delayed ability to walk
• Global developmental delay
• Primary microcephaly
• Short finger
• Chronic constipation
• Clinodactyly of the 5th finger
• Micropenis
• Cryptorchidism
• Trigonocephaly