autosomal dominant intellectual developmental disorder 73

An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozy

An autosomal dominant intellectual developmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features that has_material_basis_in heterozygous mutation in the TAF4 gene on chromosome 20q13.

Signs and symptoms

• Short stature
• Short palpebral fissure
• Ankyloglossia
• Thick vermilion border
• Lumbar hyperlordosis
• Long palpebral fissure
• Constipation
• Prominent interphalangeal joints
• Posteriorly rotated ears
• Melanocytic nevus