MYOPATHY, CONGENITAL

General Information (adopted from Orphanet):

Synonyms, Signs: BATTEN-TURNER CONGENITAL MYOPATHY
Number of Symptoms 6
OrphanetNr:
OMIM Id: 255300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000707) Abnormality of the nervous system 61 / 7739
2
 (HPO:0003198) Myopathy 151 / 7739
3
 (OMIM) Myopathy, nonprogressive 3 / 7739
4
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
 (OMIM) Amyotonia congenita 1 / 7739
6
 (MedDRA:10062547) Congenital myopathy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: