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Symbol
Name
ID

Pts
6-pyruvoyl-tetrahydropterin synthase
MGI:1338783

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes	Limb hypertonia	Hypertonia	Rigidity	Lower limb spasticity	Opisthotonus	Hypotonia	Axial hypotonia	Poor head control
Disease(s) Associated with PTS	Limb hypertonia	Hypertonia	Rigidity	Lower limb spasticity	Opisthotonus	Hypotonia	Axial hypotonia	Poor head control
BH4-deficient hyperphenylalaninemia A
phenylketonuria

Mouse Phenotypes		dystonia
Availability	Mouse Genotype	dystonia
	Pts^tm1Thny/Pts^tm1Thny

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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