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. https://www.omim.org/entry/611523

References

• GARD:10710
• MESH:C548074
• OMIM:611523
• ORDO:166073
• SNOMEDCT_US_2023_03_01:718606005
• UMLS_CUI:C1969084

Ontology

Human Disease   ( DOID:0060275 )