pontocerebellar hypoplasia type 5

Term ID

DOID:0060274

Synonyms

Definition

A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. https://pubmed.ncbi.nlm.nih.gov/16470708/

References

• GARD:10709
• MESH:C537745
• MIM:610204
• ORDO:166068
• SNOMEDCT_US_2023_03_01:718607001
• UMLS_CUI:C1857762

Ontology

Human Disease   ( DOID:0060274 )