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pontocerebellar hypoplasia type 2C
Summary
- Definition
- A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene.
- Super Class
- autosomal recessive disease pontocerebellar hypoplasia type 2
External Links
- Disease Ontology
- DOID:0060269
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
