ataxia-deafness-optic atrophy, lethal; ataxia - fatal x-linked with deafness and loss of vision
This condition is inherited in an X-linked recessive manner.
Arts syndrome is a rare metabolic disorder that causes serious neurological problems in males due to a malfunction of the PRPP synthetase 1 enzyme. Arts Syndrome is part of a spectrum of PRPS-1 related disorders with reduced activity of the enzyme that includes Charcot–Marie–Tooth disease and X-linked non-syndromic sensorineural deafness.[1]
^Synofzik, Matthis; Müller vom Hagen, Jennifer; Haack, Tobias B; Wilhelm, Christian; Lindig, Tobias; Beck-Wödl, Stefanie; Nabuurs, Sander B; van Kuilenburg, André BP; de Brouwer, Arjan PM (2014-02-14). "X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation". Orphanet Journal of Rare Diseases. 9: 24. doi:10.1186/1750-1172-9-24. ISSN 1750-1172. PMC 3931488. PMID 24528855.
Artssyndrome is a rare metabolic disorder that causes serious neurological problems in males due to a malfunction of the PRPP synthetase 1 enzyme. Arts...
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...
Dumping syndrome occurs when food, especially sugar, moves too quickly from the stomach to the duodenum—the first part of the small intestine—in the upper...
Clinical vampirism, more commonly known as Renfield's syndrome, is an obsession with drinking blood. The earliest presentation of clinical vampirism in...
Paris syndrome is a cluster of psychiatric symptoms exhibited by some individuals when visiting Paris, that can be viewed as a severe form of culture shock...
This is a list of people with Down syndrome, a condition also known as Down's syndrome or trisomy 21. Down syndrome is a genetic disorder caused by the...
Geoffroy Saint-Hilaire coined the term in 1836. The symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities...
Jerusalem syndrome is a group of mental phenomena involving the presence of religiously-themed ideas or experiences that are triggered by a visit to the...
Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) multisystem disease first described by Judith A. Sensenbrenner in...
Missing white woman syndrome is a term used by social scientists and media commentators to denote disproportionate media coverage, especially on television...
describes his life before and after a massive stroke left him with locked-in syndrome. The French edition of the book was published on March 7, 1997. It sold...
born with Down syndrome and other cognitive disabilities, since the birth of her second daughter, Pippa, who was born with the syndrome. She received the...
Honorary Doctor of the Arts by the University of Winchester and became an Ambassador to Mencap and to the National Down syndrome Policy Group. He has commented...
known projects was a film she produced on Chris Burke, the actor with Down syndrome who starred in the television series Life Goes On. She revealed that the...
successful show was The Golden Girls. Harris was diagnosed with chronic fatigue syndrome and her symptoms affected her ability to participate in the production...
of Circus Arts. The remarkable flexibility that Smith possesses is due to a genetic condition known as hypermobile Ehlers–Danlos syndrome or hEDS, one...
cleaner manufactured by Aerus Trisomy X, also known as triple X syndrome or XXX syndrome, a chromosomal disorder in which a female has an extra copy of...
pugilistica or "boxer's dementia", "boxer's madness", or "punch drunk syndrome". It has been proposed that the rules of some sports be changed as a means...
alcoholic Korsakoff syndrome. When it occurs simultaneously with alcoholic Korsakoff syndrome it is known as Wernicke–Korsakoff syndrome. Classically, Wernicke...
siblings, one of whom has Down Syndrome, in the wake of their father's death. She was the first woman with Down syndrome to star in an Off-Broadway play...
(2004). The American Martial Arts Film. McFarland. p. 181. ISBN 0786418362. "L.A. Wars – Vinegar Syndrome". Vinegar Syndrome. Archived from the original...
24 Hour Plays (as Denise at the American Airlines Theatre), The Sugar Syndrome (Williamstown Theatre Festival – July/August 2005), and Third (Mitzi E...
Global Information