Search Ontology:
Human Disease

pontocerebellar hypoplasia type 6

Term ID
DOID:0060275
Synonyms
Definition
A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene. (2)
References
Ontology
Human Disease   ( DOID:0060275 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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