OBO ID: DOID:0060275
Term Name: pontocerebellar hypoplasia type 6 Search Ontology:
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. https://www.omim.org/entry/611523
References:
Ontology: Human Disease   ( DOID:0060275 )
OTHER pontocerebellar hypoplasia type 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RARS2 Pontocerebellar hypoplasia, type 6 611523
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None