ID   HPS2313
AC   CVCL_C9WY
DR   RCB; HPS2313
DR   Wikidata; Q123032127
CC   Sequence variation: Mutation; HGNC; 14270; PCDH19; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS2313).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C201590; Developmental and epileptic encephalopathy 9
DI   ORDO; Orphanet_101039; Female restricted epilepsy with intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C9WZ ! HPS2314
OI   CVCL_C9X0 ! HPS2315
OI   CVCL_C9X1 ! HPS2316
OI   CVCL_C9X2 ! HPS2317
OI   CVCL_C9X3 ! HPS2318
SX   Female
AG   10-19Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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