autosomal dominant intellectual developmental disorder 54

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13.

Signs and symptoms

• Global developmental delay
• Hypotonia
• Inability to walk
• Intellectual disability
• Microcephaly
• Visual impairment
• Irritability
• Chronic constipation
• Absent speech
• Apnea

Also known as: autosomal dominant mental retardation 54