CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 616039
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002936) Distal sensory impairment 96 / 7739
2
 (HPO:0003383) Onion bulb formation 30 / 7739
3
 (HPO:0001265) Hyporeflexia 208 / 7739
4
 (HPO:0001284) Areflexia 198 / 7739
5
 (HPO:0003376) Steppage gait 41 / 7739
6
 (HPO:0009027) Foot dorsiflexor weakness 45 / 7739
7
 (HPO:0001761) Pes cavus 225 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: