autosomal dominant intellectual developmental disorder 53

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32.

Signs and symptoms

• Intellectual disability
• Delayed speech and language development
• Global developmental delay
• Delayed gross motor development
• Hypotonia
• Absent speech
• Delayed ability to walk
• Macrocephaly
• Downslanted palpebral fissures
• EEG abnormality

Also known as: autosomal dominant mental retardation 53