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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:0001249 | Intellectual disability |
| HP:0006955 | Olivopontocerebellar hypoplasia |
| HP:0000252 | Microcephaly |
| HP:0002060 | Abnormal cerebral morphology |
| HP:0000133 | Gonadal dysgenesis |
| HP:0001263 | Global developmental delay |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0000431 | Wide nasal bridge |
| HP:0000054 | Micropenis |
| HP:0001336 | Myoclonus |
