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Human Disease

pontocerebellar hypoplasia type 2C

Term ID
DOID:0060269
Synonyms
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. https://www.omim.org/entry/612390
References
Ontology
Human Disease   ( DOID:0060269 )
Relationships
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Genes Involved
Zebrafish Models