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*300461 - ORNITHINE CARBAMOYLTRANSFERASE; OTC
Gene summaries Genetic tests Medical literature
*616049 - TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 34; TOMM34
Cytogenetic locations: ############
*608313 - ARGINASE 1; ARG1
Cytogenetic locations: fused
*608307 - CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1
#312060 - PROPERDIN DEFICIENCY, X-LINKED; CFPD
PROPERDIN DEFICIENCY, TYPE II, INCLUDED
Cytogenetic locations: ##{^##
#311250 - ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
#310600 - NORRIE DISEASE; ND
Cytogenetic locations: 300186
#310500 - NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A
NYCTALOPIA, INCLUDED
#308100 - ICHTHYOSIS, X-LINKED; XLI
ICHTHYOSIS, X-LINKED, COMPLICATED, INCLUDED
#307030 - GLYCEROL KINASE DEFICIENCY; GKD
Cytogenetic locations: Xp22.2
*305370 - TISSUE INHIBITOR OF METALLOPROTEINASE 1; TIMP1
*300747 - STEROID SULFATASE; STS
STEROID SULFATASE, ISOZYME S, INCLUDED
#300679 - CHROMOSOME Xp21 DELETION SYNDROME
*300502 - PYRUVATE DEHYDROGENASE, ALPHA-1; PDHA1
Cytogenetic locations: AIC
#300486 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE; MRXSBL
*300377 - DYSTROPHIN; DMD
APO-DYSTROPHIN 1, INCLUDED
*300187 - SUSHI REPEAT-CONTAINING PROTEIN, X-LINKED; SRPX
#300143 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21; XLID21
#300029 - RETINITIS PIGMENTOSA 3; RP3
Cytogenetic locations: 300962
#222700 - LYSINURIC PROTEIN INTOLERANCE; LPI
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