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pontocerebellar hypoplasia type 1A

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.
Uniprot Description A disorder characterized by an abnormally small cerebellum and brainstem, central and peripheral motor dysfunction from birth, gliosis and spinal cord anterior horn cells degeneration resembling infantile spinal muscular atrophy. Additional features include muscle hypotonia, congenital contractures and respiratory insufficiency that is evident at birth.
Mondo Term and Equivalent IDs
MONDO:0011866:  pontocerebellar hypoplasia type 1A
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found