autosomal dominant intellectual developmental disorder 51

An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13.

Signs and symptoms

• Intellectual disability
• Autistic behavior
• Delayed speech and language development
• Global developmental delay
• Chronic constipation
• Febrile seizure (within the age range of 3 months to 6 years)
• Sleep onset insomnia
• Epicanthus
• Febrile seizure outside the age of 3 months to 6 years
• Unilateral cryptorchidism

Also known as: autosomal dominant mental retardation 51