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  2. 22q13 deletion syndrome - Wikipedia

    en.wikipedia.org/wiki/22q13_deletion_syndrome

    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 ...

  3. NNZ-2591 - Wikipedia

    en.wikipedia.org/wiki/NNZ-2591

    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 ]

  4. Ring chromosome 22 - Wikipedia

    en.wikipedia.org/wiki/Ring_chromosome_22

    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 ...

  5. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    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: ...

  6. Phelan-McDermid syndrome - Wikipedia

    en.wikipedia.org/?title=Phelan-McDermid_syndrome&...

    This page was last edited on 22 July 2006, at 23:58 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may ...

  7. Intellectual disability - Wikipedia

    en.wikipedia.org/wiki/Intellectual_disability

    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.

  8. Florida Medicaid waiver - Wikipedia

    en.wikipedia.org/wiki/Florida_medicaid_waiver

    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.

  9. List of syndromes - Wikipedia

    en.wikipedia.org/wiki/List_of_syndromes

    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 ...