Hyperphenylalaninemia, Bh4-deficient, C; Hpabh4c

Clinical Features

Top most frequent phenotypes and symptoms related to Hyperphenylalaninemia, Bh4-deficient, C; Hpabh4c

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscular hypotonia
  • Tremor
  • Dysphagia
  • Hypertonia
  • Dystonia
  • Encephalopathy

And another 11 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hyperphenylalaninemia, Bh4-deficient, C; Hpabh4c Is also known as dihydropteridine reductase deficiency, dhpr deficiency, quinoid dihydropteridine reductase deficiency, hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency, qdpr deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hyperphenylalaninemia, Bh4-deficient, C; Hpabh4c Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Dystonia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Epilepsy/Seizure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, BTD, SPTAN1, CDKL5, STXBP1, SYN1, TSC1, TSC2, UBE3A, CNTNAP2, CACNA1A, CACNB4, ARHGEF9 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Infantile Epilepsy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC6A8, SLC9A6, BTD, SPTAN1, CDKL5, STXBP1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, ZEB2, LIAS, ARX, MAGI2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
BH4-Deficient Hyperphenylalaninemia C.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

QDPR
Specificity
100 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
QDPR Gene Sequencing.

By GeneDx (United States).

QDPR
Specificity
100 %
Genes
100 %

You can get up to 32 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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