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Glossary for Congenital disorder of glycosylation type 1E

  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • 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.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • 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.
  • Seizures: A rare syndrome characterized by mental retardation, seizures and high levels of hydroxylysine in the urine.

 

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