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#620458 - AURICULOCONDYLAR SYNDROME 2B; ARCND2B
Cytogenetic locations: P##A##
Gene summaries Genetic tests Medical literature
#620111 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J; CMT1J
Cytogenetic locations: #5#@##
*620018 - PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 4; PDIA4
Cytogenetic locations: #~
#619651 - NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD
Cytogenetic locations: 601199
#619647 - DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR
#619606 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99
#619605 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98
Cytogenetic locations: 609738
#619602 - FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD
#619324 - HYPERTRIGLYCERIDEMIA 2; HYTG2
Cytogenetic locations: ###a##
#619143 - CARDIOACROFACIAL DYSPLASIA 2; CAFD2
Cytogenetic locations: `#####
#619142 - CARDIOACROFACIAL DYSPLASIA 1; CAFD1
Cytogenetic locations: PwU###
#618961 - SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
Cytogenetic locations: B3gat3
#618660 - HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY
#618314 - HYPOMAGNESEMIA, SEIZURES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 2; HOMGSMR2
Cytogenetic locations: 610132
*618262 - cAMP RESPONSE ELEMENT-BINDING PROTEIN 5; CREB5
Cytogenetic locations: #########c#
#618036 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD; CMT2DD
#617885 - BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19; BMIQ19
Cytogenetic locations: p#/###
#617686 - PITUITARY ADENOMA 3, MULTIPLE TYPES; PITA3
Cytogenetic locations: 0h#5##
*617172 - GLUTATHIONE PEROXIDASE 8; GPX8
Cytogenetic locations: #########MA#
#616287 - LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8
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