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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 ...
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 ]
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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: ...
These disabilities include: Cognitive impairments, spina bifida, cerebral palsy, Prader-Willi syndrome, Down syndrome, Phelan-McDermid syndrome, and Autism. The HCBS/DD medicaid waiver program helps cover the cost for things that regular medicaid does not pay for.
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.
Angelman's syndrome: Monogenic disorder: UBE3A: 15 34.0% (24.0–37.0) Cheerful demeanour, microcephaly, epilepsy, speech deficits, sleep disturbance, epilepsy, ID [1] [3] Phelan-McDermid syndrome: Monogenic disorder: SHANK3: 22 84% [in a single study composed by 32 participants] Molecularly defined [4] [8] Timothy syndrome: Monogenic disorder ...
Phelan-McDermid syndrome; Pierre Robin sequence with pectus excavatum and rib and scapular anomalies; Pierre Robin syndrome-faciodigital anomaly syndrome; Poikiloderma with neutropenia; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome; Pontocerebellar hypoplasia types 2E, 7, and 12; Potocki-Lupski syndrome; Prolidase ...