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pontocerebellar hypoplasia type 2F
Summary
- Synonym
-
- PCH2F
- Definition
- A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3.
- Super Class
- autosomal recessive disease pontocerebellar hypoplasia type 2
External Links
- Disease Ontology
- DOID:0112329
- Mondo Disease Ontology
- OMIM
