Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development

Disease Term Disease ID Gene Symbol Classification References Source
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
618124C4748283MONDO:0029131
MCM3AP Causal
24123876 28633435 28969388 29982295 32202298
CTD ClinGen ClinVar Disgenet HPO
PNPLA7 Unknown — Disgenet