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Glossary for Lissencephaly, X linked -- agenesis of the corpus callosum -- genital anomalies

  • Ambiguous genitalia: A rare syndrome characterized by ambiguous genitalia involving normal testes and Mullerian structures.
  • Brain conditions: Medical conditions that affect the brain
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
  • Dionisi-Vici-Sabetta-Gambarara syndrome: A very rare syndrome characterized mainly by brain abnormality, cataract and immunodeficiency.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Head Conditions: Conditions that affect the head
  • Hypothalamic dysfunction: Abnormal function of the thalamus located in the brain. The thalamus controls pituitary gland function which in turn controls other hormone producing glands such as the thyroid gland, adrenal gland, ovaries and testes. The thalamus also regulates functions such as temperature control, emotions, sleep, appetite and salt balance. Abnormal thalamus functioning may be caused by such things as surgery, infection, genetic disorders, poor nutrition and tumors.
  • Nervous system conditions: Diseases affecting the nerves and the nervous system.
  • Penis symptoms: Various symptoms affecting the male penis
  • Sexual Conditions: Any condition that affects sexual function
  • Undescended testes: A condition which is characterized by the failure of the testes to descend into the scrotum
  • XLAG syndrome: A rare syndrome characterized by genital anomalies and abnormal brain development which results in severe neurological symptoms. Epilepsy usually starts during infancy. The disorder is inherited in a X-linked manner so only males manifest the full severity of symptoms whereas female carriers are asymptomatic or suffer only mild symptoms.

 

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