intellectual developmental disorder with seizures and dysmorphic facies

An autosomal dominant intellectual developmental disorder characterized by mildly impaired intellectual development, learning difficulties, and early-onset seizures that are well controlled by medication that has_material_basis_in heterozygous mutation in the

An autosomal dominant intellectual developmental disorder characterized by mildly impaired intellectual development, learning difficulties, and early-onset seizures that are well controlled by medication that has_material_basis_in heterozygous mutation in the UNC13A gene on chromosome 19p13.

Signs and symptoms

• Moderate intellectual disability
• Hypoplastic nasal tip
• Hypotonia
• Smooth philtrum
• Lumbar hyperlordosis
• Hypertelorism
• Broad forehead
• Genu valgum
• Hyperactivity
• Tall stature