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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 ...
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Phelan-McDermid syndrome: 22q13 D Phenylketonuria: PAH: recessive 1:12,000 Pipecolic acidemia: AASDHPPT: recessive Pitt–Hopkins syndrome: TCF4 (18) dominant, de novo 1:11,000-41,000 Polycystic kidney disease: PKD1 (16) or PKD2 (4) P Polycystic ovary syndrome (PCOS) Porphyria: 1-100:50,000 Prader–Willi syndrome: 15: paternal imprinting 1: ...
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.
Early reports were split on the topic of whether ring chromosome 22 constituted a consistent syndrome or simply a finding in a heterogeneous group of intellectually disabled people. [14] One early case that drew attention to the syndrome was a report of monozygotic twin sisters with a ring 22, one of the first recorded reports of a shared ...
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 ]
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 ...