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#606054 - PROPIONIC ACIDEMIA
Cytogenetic locations: 1p36, 1p36
Gene summaries Genetic tests Medical literature
#243500 - ISOVALERIC ACIDEMIA; IVA
Cytogenetic locations: 22063866
#248600 - MAPLE SYRUP URINE DISEASE, TYPE IA; MSUD1A
Cytogenetic locations: 610749, 610749, 1p36
#615751 - CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO; CA5AD
Cytogenetic locations: 24530203
*232050 - PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT; PCCB
Cytogenetic locations: 12189489
*232000 - PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT; PCCA
Cytogenetic locations: 17361761
275190 - TIGLIC ACIDEMIA
*609058 - METHYLMALONYL-CoA MUTASE; MMUT
Cytogenetic locations: Retinitis
#251000 - METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY; MAMM
METHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED
Cytogenetic locations: 11538289
*138247 - GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 2; GRIA2
Cytogenetic locations: 30975770
*147450 - SUPEROXIDE DISMUTASE 1; SOD1
Cytogenetic locations: 10735277
#245050 - SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY; SCOTD
Cytogenetic locations: 24258782
#253260 - BIOTINIDASE DEFICIENCY
Cytogenetic locations: 607952
#605899 - GLYCINE ENCEPHALOPATHY 1; GCE1
HYPERGLYCINEMIA, TRANSIENT NEONATAL, INCLUDED; TNH, INCLUDED
Cytogenetic locations: 27885541
#105400 - AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE, INCLUDED
Cytogenetic locations: 1p36, 1p36, 1p36, 1p36
*305915 - GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 3; GRIA3
Cytogenetic locations: 11144349
#229100 - GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Cytogenetic locations: 21235753
*600895 - PROLACTIN-RELEASING HORMONE RECEPTOR; PRLHR
Cytogenetic locations: 12126742
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