ID   HPS2939
AC   CVCL_D0WR
DR   RCB; HPS2939
DR   Wikidata; Q123032463
CC   Sequence variation: Mutation; HGNC; HGNC:8980; PIK3R2; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2939).
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_D0WS ! HPS2940
OI   CVCL_D0WT ! HPS2941
SX   Female
AG   10-19Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
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