WebSenior-Loken Syndrome 6.. Spastic Paraplegia, Optic Atrophy, And Dementia.. Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal.. Wolfram Syndrome 1 .. Wolfram Syndrome, Mitochondrial Form Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Leigh+Diseaseの臨床試験-臨床試験登録-ICH GCP

WebMar 1, 2024 · Pontocerebellar hypoplasia type 6 (PCH6) is a rare infantile-onset progressive encephalopathy caused by biallelic mutations in RARS2 that encodes the mitochondrial … WebSupporting: 5, Mentioning: 64 - Six subtypes of autosomal recessive pontocerebellar hypoplasia (PCH) have been identified and the genetic basis of four of these (PCH1, … ctb art 289

Entry - #611523 - PONTOCEREBELLAR HYPOPLASIA, TYPE 6; …

WebMost of the known RARS2 gene mutations cause a form of the disorder designated pontocerebellar hypoplasia type 6 (PCH6). One mutation has been found in an individual … WebPCH6 is associated with cerebral atrophy and multiple but variable respiratory chain defects in muscle and has been reported in one ... Pontocerebellar hypoplasia type 6: A British … WebA Biblioteca Virtual em Saúde é uma colecao de fontes de informacao científica e técnica em saúde organizada e armazenada em formato eletrônico nos países da Região Latino-Americana e do Caribe, acessíveis de forma universal na Internet de modo compatível com as bases internacionais. ctb art 261