X-linked alpha-thalassemia/mental retardation syndrome (ATR-X syndrome)

Genetics

• associated with defects in ATRX

Clinical manifestations

• severe psychomotor retardation
• facial dysmorphism
• urogenital abnormalities
• alpha-thalassemia

Laboratory

• hemoglobin electrophoresis: hemoglobin H
• peripheral blood smear: erythrocyte inclusions

More general terms

• X-linked mental retardation syndromic

Additional terms

• alpha thalassemia
• intellectual disability; mental retardation

Database

• OMIM: https://mirror.omim.org/entry/301040