autosomal dominant intellectual developmental disorder 70

An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous mi

An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21.

Signs and symptoms

• Intellectual disability
• Global developmental delay
• Retrognathia
• Upslanted palpebral fissure
• Broad nasal tip
• Malar flattening
• Pointed chin
• Retinal detachment
• Hearing impairment
• Short palpebral fissure