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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
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q01433 | AMP deaminase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001321 | Cerebellar hypoplasia |
| HP:0011800 | Midface retrusion |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0000297 | Facial hypotonia |
| HP:0002015 | Dysphagia |
| HP:0003593 | Infantile onset |
| HP:0001250 | Seizure |
| HP:0000158 | Macroglossia |
| HP:0002119 | Ventriculomegaly |
