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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
- 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 |
