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pontocerebellar hypoplasia, type 1d

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description An autosomal recessive neurologic disorder with onset at birth or in infancy, and characterized by progressive axonal motor neuronopathy, severe generalized hypotonia, respiratory insufficiency, and cerebellar atrophy. Death in childhood may occur.
Mondo Term and Equivalent IDs
MONDO:0054844:  pontocerebellar hypoplasia, type 1d
UMLS:CN252648: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found