NEMALINE MYOPATHY 8

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 615348
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:0002015) Dysphagia 301 / 7739
3
 (HPO:0002375) Hypokinesia 25 / 7739
4
 (HPO:0000765) Abnormality of the thorax 64 / 7739
5
 (HPO:0001371) Flexion contracture 220 / 7739
6
 (HPO:0001989) Fetal akinesia sequence 14 / 7739
7
 (HPO:0002878) Respiratory failure 57 / 7739
8
 (HPO:0003715) Myofibrillar myopathy 9 / 7739
9
 (HPO:0003798) Nemaline bodies 12 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: