alpha thalassemia-X-linked intellectual disability syndrome

A syndrome characterized by a variable phenotype including distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay or intellectual disability, and alpha thalassemia that has_material_basis_in mutation in the AT

A syndrome characterized by a variable phenotype including distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay or intellectual disability, and alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21.

Signs and symptoms

• Epicanthus
• Bilateral tonic-clonic seizure
• Seizure
• Hypotonia
• Thick vermilion border
• Hypertelorism
• Intellectual disability
• Poor suck
• Midface retrusion
• Weak cry

Also known as: ATR, nondeletion type; ATR-X syndrome; alpha-thalassemia/mental retardation syndrome nondeletion type