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#620306 - NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT; NSCT
Cytogenetic locations: #EA###
Gene summaries Genetic tests Medical literature
#619538 - CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4
#619465 - VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2
Cytogenetic locations: ######
#619281 - IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B
Cytogenetic locations: 1p36.22
#619097 - MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3
Cytogenetic locations: -
#619096 - MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2
Cytogenetic locations: #[#M##
#619087 - NOONAN SYNDROME 13; NS13
Cytogenetic locations: 0#{}##
#618681 - LESSEL-KUBISCH SYNDROME; LSKB
Cytogenetic locations: #d####
#618165 - BONE MARROW FAILURE SYNDROME 5; BMFS5
#617883 - FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS
#617100 - FAMILIAL ADENOMATOUS POLYPOSIS 4; FAP4
Cytogenetic locations: #|####
#616005 - IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION; IMD36
Cytogenetic locations: ##4###
#615937 - MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2
#615513 - IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT; IMD14A
#615214 - AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7
Cytogenetic locations: P##7##
#615109 - COWDEN SYNDROME 6; CWS6
Cytogenetic locations: GSKIP
#615108 - COWDEN SYNDROME 5; CWS5
#614740 - BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7; BCC7
#614401 - ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS
#614350 - LYNCH SYNDROME 5; LYNCH5
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