ID   HPS1657
AC   CVCL_C9RX
DR   RCB; HPS1657
DR   Wikidata; Q123031913
CC   Sequence variation: Mutation; HGNC; 14270; PCDH19; Unexplicit; Not described; Zygosity=Unspecified (RCB=HPS1657).
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_C9RV ! HPS1655
OI   CVCL_C9RW ! HPS1656
OI   CVCL_C9RY ! HPS1658
OI   CVCL_C9RZ ! HPS1659
OI   CVCL_C9S0 ! HPS1660
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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