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#261640 - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY, INCLUDED
Cytogenetic locations: 614908
Gene summaries Genetic tests Medical literature
*612719 - 6-@PYRUVOYL-TETRAHYDROPTERIN SYNTHASE; PTS
Cytogenetic locations: 11282802
#612716 - DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
Cytogenetic locations: 16532389
*612676 - QUINOID DIHYDROPTERIDINE REDUCTASE; QDPR
Cytogenetic locations: linked
*612349 - PHENYLALANINE HYDROXYLASE; PAH
Cytogenetic locations: 11671770
*600225 - GTP CYCLOHYDROLASE I; GCH1
Cytogenetic locations: 617828
#264070 - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D
Cytogenetic locations: 29760199
#261630 - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C
Cytogenetic locations: 12785251
#261600 - PHENYLKETONURIA; PKU
HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED
Cytogenetic locations: 11683647
#233910 - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE, INCLUDED
*191290 - TYROSINE HYDROXYLASE; TH
Cytogenetic locations: 620463
*191060 - TRYPTOPHAN HYDROXYLASE 1; TPH1
Cytogenetic locations: 19041748
*182125 - SEPIAPTERIN REDUCTASE; SPR
#168600 - PARKINSON DISEASE, LATE-ONSET; PD
Cytogenetic locations: 1p36, 1p36, 1p36, 607849, 1p36, 613386, 1p36
*163731 - NITRIC OXIDE SYNTHASE 1; NOS1
NITRIC OXIDE SYNTHASE, NEURONAL, INCLUDED
Cytogenetic locations: 17685260
#128230 - DYSTONIA, DOPA-RESPONSIVE; DRD
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