MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 616040
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:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
2
 (HPO:0001265) Hyporeflexia 208 / 7739
3
 (HPO:0001288) Gait disturbance 318 / 7739
4
 (HPO:0001284) Areflexia 198 / 7739
5
 (HPO:0001765) Hammertoe 63 / 7739
6
 (HPO:0001761) Pes cavus 225 / 7739
7
 (HPO:0003701) Proximal muscle weakness rare [HPO:skoehler] 105 / 7739
8
 (HPO:0003202) Skeletal muscle atrophy rare [HPO:skoehler] 281 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: