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22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype ) typical of a terminal deletion may be diagnosed as 22q13 ...
Retrieved from "https://en.wikipedia.org/w/index.php?title=Phelan-McDermid_syndrome&oldid=65289780"
NNZ-2591 is a synthetic analog of cyclic glycine-proline and experimental drug developed for Angelman syndrome, Phelan-McDermid syndrome, Pitt Hopkins syndrome, [1] [2] and Prader-Willi syndrome. [ 3 ]
22q13 deletion syndrome (Phelan–McDermid syndrome) [4] is a condition caused by the deletion of the tip of the q arm on chromosome 22. Most individuals with this disorder experience cognitive delays, low muscle tone, and sleeping, eating, and behavioural issues.
Other genetic conditions include Phelan–McDermid syndrome (22q13del), Mowat–Wilson syndrome, genetic ciliopathy, [36] and Siderius type X-linked intellectual disability (OMIM: 300263) as caused by mutations in the PHF8 gene (OMIM: 300560). [37] [38] In the rarest of cases, abnormalities with the X or Y chromosome may also cause disability.
Phantom vibration syndrome; Phelan-McDermid Syndrome; Pickwickian syndrome; Pigment dispersion syndrome; Pigmented hairy epidermal nevus syndrome; Pilotto syndrome; Piriformis syndrome; Pitt–Hopkins syndrome; Plica syndrome; Plummer–Vinson syndrome; POEMS syndrome; Poland syndrome; Polar T3 syndrome; Polio-like syndrome; Polycystic ovary ...
Sellars was born with abnormally large and misshapen legs and feet, which continued to grow at a disproportionate rate. In a November 2009 interview, she estimated that she weighed about 21 stone (294 lb or 133 kg): 6 stone (84 lb or 38 kg) for her upper body and the remainder in her legs and feet (210 lb or 95 kg).
A young woman experiences bizarre episodes where they sleep for almost the entire day after a car accident causes them to develop Kleine-Levin syndrome. An 11-year-old suffers a terrible headache. An 11-year-old suffers a terrible headache.
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related to: phelan mcdermid syndrome wikipedia biography full episodes youtube today