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pontocerebellar hypoplasia type 1E
Summary
- Synonym
-
- PCH1E
- Definition
- A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1.
- Super Class
- autosomal recessive disease pontocerebellar hypoplasia type 1
External Links
- Disease Ontology
- DOID:0112330
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96AG3 | Mitochondrial outer membrane protein SLC25A46 |
