About The Medical Condition Syndromes, FRAXE
Find the definition of the medical term Syndromes, FRAXE. Syndromes, FRAXE defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Syndromes, FRAXE
| Syndromes, FRAXE Medical Condition |
|---|
What's The Definition Of The Medical Condition Syndromes, FRAXE?
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
- Phosphatidyl Inositol Phosphates ‐ Phosphatidylinositols in which one or more alcohol group of the…
- Vesicle, Secretory ‐ Vesicles derived from the GOLGI APPARATUS containing material…
- Beta Keto Acyl Synthetase ‐ An enzyme of long-chain fatty acid synthesis, that adds a two-carbon…
- Pointe, Torsade de ‐ A ventricular tachycardia characterized by periodic twisting…
- Folvite ‐ A member of the vitamin B family that stimulates the hematopoietic…
- Glycogenosis Type II ‐ An autosomal recessively inherited glycogen storage disease caused…
- Endometrial Neoplasm ‐ Tumors or cancer of the inner mucous membrane of…
- Banks, Milk ‐ Centers for acquiring, storing, and distributing…
- Mycobacillin ‐ A cyclic polypeptide antibiotic isolated from culture filtrates…
- Amino Acid Sequence Databases ‐ DATABASES containing information about PROTEINS such as AMINO…