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Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life.
Choroideremia-deafness-obesity syndrome This condition is inherited in an X-linked recessive manner. Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome ) [ 1 ] is a syndrome characterized by choroideremia , congenital deafness and obesity .
Cogan syndrome (also Cogan's syndrome) is a rare disorder characterized by recurrent inflammation of the front of the eye (the cornea) and often fever, fatigue, and weight loss, episodes of vertigo (dizziness), tinnitus (ringing in the ears) and hearing loss.
Motoric cognitive risk syndrome is a series of symptoms that suggest someone may be developing dementia. It’s characterized by slow walking and cognitive complaints, like trouble with memory and ...
The first case of the MASA Syndrome was found in a boy in Asia. The patient was a 10-year-old boy with symptoms like, mild mental retardation, bilateral adducted thumbs and corpus callosum hypoplasia. [15] His family did not have any history with MASA syndrome. There is not just one specific doctor or scientist for this disorder.
Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene.It is characterized by lower than average IQ (typically about 85), problematic impulsive behavior (such as pyromania, hypersexuality and violence), sleep disorders and mood swings.
5. Excess Cash. Walking around with a fat wallet of cash feels good, but if you lose your wallet, the odds of keeping your green aren’t good. Besides, if you’re out and about and a potential ...
A lawyer for sex-trafficking victims in a ring allegedly run by ex-Abercrombie & Fitch CEO Mike Jeffries has doubts about claims he has dementia.