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Entry Name Description Category Pathway Gene
H02345 Autosomal recessive peripheral neuropathy (PNRIID) ... with mild intellectual disability, strabismus, and ophthalmoparesis. It has been reported that PNRIID is caused by mutations in the MCM3AP, encoding the germinal center associated nuclear protein (GANP). Nervous system disease MCM3AP [HSA:8888] [KO:K24317]
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