GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Charcot-Marie-Tooth Disease Type 4D(NDRG1 Charcot-Marie-Tooth disease type 4) 
An Autosomal recessive mode(s) within the Neuromuscular disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 NDRG1/10397 N-myc downstream regulated 1 8q24.22 Chr8, NC_000008.11
(133237175..133297252, complement)
60078 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:      Orphanet          OMIM                    GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

Patient care services
Clinical Symptoms & Disabilities