|OBO ID: DOID:0112225|
|Term Name:||BH4-deficient hyperphenylalaninemia B||Search Ontology:|
|Definition:||A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in GCH1 on chromosome 14q22.2. https://pubmed.ncbi.nlm.nih.gov/7869202/|
|Ontology:||Human Disease (DOID:0112225)|
|is a type of:||
OTHER BH4-deficient hyperphenylalaninemia B PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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