GenTIGSA Gene Database on Rare Genetic Disorders
GTP Cyclohydrolase I Deficiency With Hyperphenylalaninemia  
Disease Aliases (6)

Gtpch deficiency

Hpabh4b

Hyperphenylalaninemia due to gtp cyclohydrolase deficiency

Hyperphenylalaninemia, bh4-deficient, b

Hyperphenylalaninemia, bh4-deficient, type b

Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase 1 deficiency

Associated Genes (0)
 

Cross-references of GTP cyclohydrolase I deficiency with hyperphenylalaninemia OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations