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pontocerebellar hypoplasia type 9
Summary
- Definition
- A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.
- Super Class
- pontocerebellar hypoplasia
External Links
- Disease Ontology
- DOID:0060278
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002120 | Cerebral cortical atrophy |
| HP:0000188 | Short upper lip |
| HP:0001347 | Hyperreflexia |
| HP:0003577 | Congenital onset |
| HP:0001249 | Intellectual disability |
