|
Symbol Name ID |
Phyh
phytanoyl-CoA hydroxylase MGI:891978 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Anosmia |
Increased CSF protein concentration |
Polymicrogyria |
Ataxia |
Abnormal pyramidal sign |
Hemiplegia/hemiparesis |
EEG abnormality |
Cognitive impairment |
Intellectual disability, severe |
Reduced tendon reflexes |
Hyporeflexia |
Developmental regression |
Profound global developmental delay |
Peripheral neuropathy |
Sensorimotor neuropathy |
Seizure |
Somatic sensory dysfunction |
| Disease(s) Associated with PHYH | ||||||||||||||||||
| Refsum disease | ||||||||||||||||||
| Zellweger syndrome |
| Mouse Phenotypes | decreased Purkinje cell number |
abnormal nervous system physiology |
abnormal astrocyte physiology |
abnormal action potential |
decreased nerve conduction velocity |
|
| Availability | Mouse Genotype | |||||
| Phyhtm1Safe/Phyhtm1Safe | ||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/23/2024 MGI 6.23 |
|
|
|
||
Analysis Tools