Distal hereditary motor neuropathy type 7

General Information (adopted from Orphanet):

Synonyms, Signs: dHMN7
Distal spinal muscular atrophy with vocal cord paralysis
Number of Symptoms 12
OrphanetNr: 139589
OMIM Id: 158580
607641
ICD-10: G12.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant distal hereditary motor neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001605) Vocal cord paralysis 13 / 7739
2
 (HPO:0001265) Hyporeflexia 208 / 7739
3
 (HPO:0002355) Difficulty walking 61 / 7739
4
 (HPO:0009830) Peripheral neuropathy 206 / 7739
5
 (HPO:0001604) Vocal cord paresis 8 / 7739
6
 (HPO:0001337) Tremor rare [HPO:skoehler] 200 / 7739
7
 (HPO:0001761) Pes cavus 225 / 7739
8
 (HPO:0002460) Distal muscle weakness 122 / 7739
9
 (HPO:0003693) Distal amyotrophy 118 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
 (HPO:0003677) Slow progression 134 / 7739
12
 (HPO:0003674) Onset 32 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: