autosomal dominant primary microcephaly 26

A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on

A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23.

Signs and symptoms

• Microcephaly
• Delayed ability to walk
• Global developmental delay
• Short stature
• Delayed speech and language development
• Feeding difficulties
• Scoliosis
• Seizure
• Simplified gyral pattern
• Cerebral visual impairment