Charcot-Marie-Tooth disease, type 4D Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4 (see this term), a demyelinating hereditary motor and sensory neuropathy, characterized by gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade , and sensorineural deafness usually manifesting in the second or third decade of life. (Orphanet Rare Disease Ontology, Orphanet_99950)
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1 genes associated with the Charcot-Marie-Tooth disease, type 4D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
NDRG1 N-myc downstream regulated 1