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pontocerebellar hypoplasia type 7
Summary
- Definition
- A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene.
- Super Class
- pontocerebellar hypoplasia
External Links
- Disease Ontology
- DOID:0060276
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 412 | STS | steroid sulfatase | |
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 1743 | DLST | dihydrolipoamide S-succinyltransferase | |
| 2218 | FKTN | fukutin | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 6383 | SDC2 | syndecan 2 | |
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000215 | Thick upper lip vermilion |
| HP:0004305 | Involuntary movements |
| HP:0000639 | Nystagmus |
| HP:0012856 | Abnormal scrotal rugation |
| HP:0001252 | Hypotonia |
| HP:0000347 | Micrognathia |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0000028 | Cryptorchidism |
| HP:0001257 | Spasticity |
| HP:0000062 | Ambiguous genitalia |
