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Details of EXOSC3 gene in Homo sapiens
Disease |
|---|
| Disease |
OMIM id |
| Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. |
614678 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
