ID HPS2941 AC CVCL_D0WT DR RCB; HPS2941 DR Wikidata; Q123032465 CC Sequence variation: Mutation; HGNC; HGNC:8980; PIK3R2; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2941). CC Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. DI NCIt; C202114; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome-1 DI ORDO; Orphanet_83473; Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome OX NCBI_TaxID=9606; ! Homo sapiens (Human) OI CVCL_D0WN ! HPS2936 OI CVCL_D0WP ! HPS2937 OI CVCL_D0WQ ! HPS2938 OI CVCL_D0WR ! HPS2939 OI CVCL_D0WS ! HPS2940 SX Female AG 10-19Y CA Induced pluripotent stem cell DT Created: 05-10-23; Last updated: 19-12-24; Version: 3 //