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pontocerebellar hypoplasia type 1B

Disease Summary
Associated Targets (1)


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Mondo Description Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.
Uniprot Description A severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement.
Disease Ontology Description A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene.
Mondo Term and Equivalent IDs
MONDO:0013853:  pontocerebellar hypoplasia type 1B
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)