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Glossary for Congenital disorder of glycosylation type X -- Bombay blood group phenotype

  • Blood conditions: Conditions that affect the blood
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital conditions -- blood disorders: Congenital medical conditions affecting the blood at birth.
  • Congenital disorder of glycosylation type 1/IIX: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type I/IIX refers to cases where the specific abnormality cannot be determined.
  • Congenital disorder of glycosylation type 2C: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2c is caused by a defect on chromosome 11p11.2 and involves a defect in the gene for GDP-fucose transporter.
  • Congenital metabolic disorders: Congenital (birth) defects affecting any metabolic systems.
  • Dysmorphic features: Dysmorphic features refers to unusual or abnormal body features that may be related to a genetic or congenital disease or disorder.
  • Failure To Thrive: Slow growth or inadequate weight gain of an infant or child.
  • Failure to thrive: Slow growth or inadequate weight gain of an infant or child.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Immune disorders: Disorders that affect the immune system
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Muscle weakness: A condition which is characterized by an inability of the muscles to function at their full strenght
  • Psychomotor retardation: Psychomotor retardation refers to a slowing of physical movement and speech and activity caused by a mental health or emotional condition, such as depression.
  • Short stature: A rare syndrome characterized mainly by the association of short stature, Pierre Robin sequence, cleft mandible, hand anomalies and clubfoot.
  • Simian crease: Simian crease is a condition in which a person has only one crease on the palm of the hand instead of two or more.

 

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