OBO ID: DOID:0111168 |
Term Name: | sepiapterin reductase deficiency | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency. (4) | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0111168 ) |
OTHER sepiapterin reductase deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.