Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0005484 | Secondary microcephaly |
| HP:0001257 | Spasticity |
| HP:0012110 | Hypoplasia of the pons |
| HP:0001332 | Dystonia |
| HP:0000648 | Optic atrophy |
| HP:0002169 | Clonus |
| HP:0100704 | Cerebral visual impairment |
| HP:0001276 | Hypertonia |
| HP:0008936 | Axial hypotonia |
| HP:0000486 | Strabismus |
