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#620776 - THROMBOCYTOPENIA 13, SYNDROMIC; THC13
Gene summaries Genetic tests Medical literature
#620757 - THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY; THC12
#619614 - RETINITIS PIGMENTOSA 92; RP92
Cytogenetic locations: 600438
#618792 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
Cytogenetic locations: ###<##
#618744 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
#618547 - NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA
Cytogenetic locations: ######
#618324 - CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2; CDGF2
Cytogenetic locations: #t#T##
#617460 - RETINITIS PIGMENTOSA 79; RP79
*617221 - HEXOKINASE DOMAIN-CONTAINING PROTEIN 1; HKDC1
*616510 - GLUCOSAMINE-PHOSPHATE N-ACETYLTRANSFERASE 1; GNPNAT1
#615816 - IMMUNODEFICIENCY 23; IMD23
#615510 - ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; AAMR
*615495 - GDP-MANNOSE PYROPHOSPHORYLASE A; GMPPA
#615352 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14
Cytogenetic locations: `##C##
#615351 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14; MDDGB14
Cytogenetic locations: #GUz##
#615350 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14
Cytogenetic locations: ###y##
*615320 - GDP-MANNOSE PYROPHOSPHORYLASE B; GMPPB
#614921 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T
Cytogenetic locations: P#i###
#614122 - CHITOTRIOSIDASE DEFICIENCY; CHITD
Cytogenetic locations: 0#km##
#613470 - HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
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