Disease #00093 (HPABH-4A (hyperphenylalaninemia, BH4-deficient, type A (HPABH-4A, 6-pyruvoyl-tetrahydropterin synthase deficiency)), OMIM:261640)
Official abbreviation |
HPABH-4A |
Name |
hyperphenylalaninemia, BH4-deficient, type A (HPABH-4A, 6-pyruvoyl-tetrahydropterin synthase deficiency) |
OMIM ID |
261640 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
Autosomal dominant |
Individuals reported having this disease |
1 |
Phenotype entries for this disease |
- |
Associated with 1 gene |
PTS |
Associated tissues |
- |
Disease features |
- |
Remarks |
- |
Individuals
|
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