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pontocerebellar hypoplasia, type 1C

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.
Uniprot Description A severe autosomal recessive neurodegenerative disease characterized by cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system, and spinal motor neuron disease. Affected individuals manifest failure to thrive, severe muscle weakness, spasticity and psychomotor retardation. Vision and hearing are impaired.
Mondo Term and Equivalent IDs
MONDO:0014485:  pontocerebellar hypoplasia, type 1C
UMLS:C4015160: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found