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pontocerebellar hypoplasia type 5

Disease Summary
Associated Targets (1)
Tbio

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Mondo Description Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.
Uniprot Description A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0012438:  pontocerebellar hypoplasia type 5
GARD:0010709: 
MESH:C537745: 
Orphanet:166068: 
SCTID:718607001: 
UMLS:C1857762: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)