NEMALINE MYOPATHY 10

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 616165
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:0010628) Facial palsy 146 / 7739
2
 (HPO:0000602) Ophthalmoplegia 56 / 7739
3
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
4
 (HPO:0001622) Premature birth 100 / 7739
5
 (HPO:0001561) Polyhydramnios 191 / 7739
6
 (HPO:0001558) Decreased fetal movement 74 / 7739
7
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
8
 (HPO:0001283) Bulbar palsy 31 / 7739
9
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
10
 (HPO:0006829) Severe muscular hypotonia 29 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: