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Diseases » ATR-X syndrome » Glossary
 

Glossary for ATR-X syndrome

  • Alpha thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia involves defects in one or more of the four genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Blood conditions: Conditions that affect the blood
  • Congenital conditions -- blood disorders: Congenital medical conditions affecting the blood at birth.
  • Eye symptoms: Symptoms affecting the eye
  • Facial anomalies: Facial anomalies include any type of deformity or malformation of the face.
  • Intellectual or developmental disabilities: Disorders of physical or intellectual development.
  • Mental retardation: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
  • Mental retardation conditions: Medical conditions related to or causing mental retardation.
  • Sexual Conditions: Any condition that affects sexual function
  • Small head: The occurrence of a head which is smaller than normal

 

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