|
Symbol Name ID |
Pts
6-pyruvoyl-tetrahydropterin synthase MGI:1338783 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Decreased CSF homovanillic acid concentration |
Decreased CSF 5-hydroxyindolacetic acid concentration |
Dysphagia |
Lower limb spasticity |
Opisthotonus |
Cerebral calcification |
Abnormal cerebral white matter morphology |
Ataxia |
Abnormality of extrapyramidal motor function |
Bradykinesia |
Parkinsonism |
Choreoathetosis |
Chorea |
Clonus |
Myoclonus |
Tremor |
EEG abnormality |
Hypsarrhythmia |
Delayed speech and language development |
Depression |
Irritability |
Anxiety |
Psychosis |
Atypical behavior |
Aggressive behavior |
Compulsive behaviors |
Hyperactivity |
Attention deficit hyperactivity disorder |
Restlessness |
Agitation |
Self-mutilation |
Dementia |
Progressive neurologic deterioration |
Short attention span |
Intellectual disability |
Intellectual disability, progressive |
Intellectual disability, severe |
Drowsiness |
Excessive daytime somnolence |
Hyperreflexia |
Dystonia |
Oculogyric crisis |
Falls |
Hyperkinetic movements |
Encephalopathy |
Global developmental delay |
Motor delay |
Specific learning disability |
Seizure |
| Disease(s) Associated with PTS | ||||||||||||||||||||||||||||||||||||||||||||||||||
| BH4-deficient hyperphenylalaninemia A | ||||||||||||||||||||||||||||||||||||||||||||||||||
| phenylketonuria |
| Mouse Phenotypes | abnormal nervous system physiology |
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| Availability | Mouse Genotype | |
| Ptstm1Ich/Ptstm1Ich | ||
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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last database update 05/14/2024 MGI 6.23 |
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