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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:0000377 | Abnormal pinna morphology |
| HP:0006970 | Periventricular leukomalacia |
| HP:0001263 | Global developmental delay |
| HP:0012434 | Delayed early-childhood social milestone development |
| HP:0001344 | Absent speech |
| HP:0000737 | Irritability |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0000341 | Narrow forehead |
