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pontocerebellar hypoplasia type 16
Summary
- Synonym
-
- PCH16
- Definition
- A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2.
- Super Class
- autosomal recessive disease pontocerebellar hypoplasia
External Links
- Disease Ontology
- DOID:0112333
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UNW1 | Multiple inositol polyphosphate phosphatase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001250 | Seizure |
| HP:0002194 | Delayed gross motor development |
| HP:0000508 | Ptosis |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0002071 | Abnormality of extrapyramidal motor function |
