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Human Disease

pontocerebellar hypoplasia type 10

Term ID
DOID:0060279
Synonyms
Definition
A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene. (2)
References
Ontology
Human Disease   ( DOID:0060279 )
Relationships
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Genes Involved
Zebrafish Models