WebPontocerebellar hypoplasia type 6 (PCH6) is a rare infantile-onset progressive encephalopathy caused by biallelic mutations in RARS2 that encodes the mitochondrial … WebAn important gene associated with Pontocerebellar Hypoplasia, Type 6 is RARS2 (Arginyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. Affiliated tissues include cerebellum, pons and brain, and related phenotypes are seizure and hyperreflexia.
Pontocerebellar hypoplasia type 6 - Rare Disease Day 2024
WebBi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia Somashekar, P. H., Kaur, P., ... Pontocerebellar Hypoplasia Type 1 38%. Immunoblotting 36%. Exosome Multienzyme Ribonuclease Complex 30%. 5 Citations (Scopus) View all 21 research outputs WebDisease definition. A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar … grand canyon horseshoe hiking
Pontocerebellar hypoplasia type 2C - NIH Genetic Testing Registry …
WebSEPSECS Pontocerebellar hypoplasia, type 2D AR 10 15 SLC1A4 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly AR 4 8 ... AR 12 6 VRK1 Pontocerebellar hypoplasia AR 9 9 WDR62 Microcephaly AR 33 48 WDR73 Galloway-Mowat syndrome AR 9 12 XRCC4 Short stature, ... WebAug 1, 2024 · Pontocerebellar Hypoplasia: a Pattern Recognition Approach. August 2024; ... differe nt types ar e listed in OMIM (O nline Men delian In heritan ce in Man), ass ociated … Webmum from Paisley. Anna Dunn, 40, had her world turned upside down when she was told by doctors that then four-month-old Bonham had Pontocerebellar Hypoplasia type 2A which is a life-limiting ... chincoteague island va resorts