About The Medical Condition Martin-Bell Syndrome
Find the definition of the medical term Martin-Bell Syndrome. Martin-Bell Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Martin-Bell Syndrome
| Martin-Bell Syndrome Medical Condition |
|---|
What's The Definition Of The Medical Condition Martin-Bell Syndrome?
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. MENTAL RETARDATION occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Myopathy, Rod ‐ A group of inherited congenital myopathic conditions characterized…
- Dietary Fat ‐ Fats present in food, especially in animal products such as meat,…
- Radionuclide Angiocardiographies, Equilibrium ‐ Radionuclide ventriculography where scintigraphic data is acquired…
- Acetonide 21-Acetate, Fluocinolone ‐ A topical glucocorticoid used in the treatment…
- Obstructive Hydrocephalus ‐ Excessive accumulation of cerebrospinal fluid within the cranium…
- Glutamyl T RNA Synthetase ‐ An enzyme that activates glutamic acid with its specific transfer…
- Grafts ‐ Organs, tissues, or cells taken from the body for grafting into…
- Muscle Fibers, Red ‐ Skeletal muscle fibers having high myofibrillar ATPase activity,…
- Therapies, Exercise ‐ Motion of the body or its parts to relieve symptoms or to improve…
- Esophageal Diverticuloses ‐ Saccular, outward protrusion of all or a portion of the esophageal…