X-linked intellectual disability-hypotonic facies syndrome-1

A syndromic X-linked intellectual disability that is characterized primarily by severely impaired intellectual development, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene

A syndromic X-linked intellectual disability that is characterized primarily by severely impaired intellectual development, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene on chromosome Xq13. This now comprises several syndromes previously reported separately, including Carpenter-Waziri syndrome, Holmes-Gang syndrome, and Smith-Fineman-Myers syndrome.

Signs and symptoms

• Epicanthus
• Tented upper lip vermilion
• Small scrotum
• Short stature
• Renal hypoplasia
• Protruding tongue
• U-Shaped upper lip vermilion
• Gastroesophageal reflux
• Coarse facial features
• Hypertelorism

Also known as: X-linked mental retardation-hypotonic facies syndrome-1