NEMALINE MYOPATHY 9

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 615731
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:0000218) High palate rare [HPO:skoehler] 356 / 7739
2
 (HPO:0000347) Micrognathia rare [HPO:skoehler] 426 / 7739
3
 (HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
4
 (HPO:0001270) Motor delay 322 / 7739
5
 (HPO:0002804) Arthrogryposis multiplex congenita rare [HPO:skoehler] 93 / 7739
6
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
7
 (HPO:0000774) Narrow chest rare [HPO:skoehler] 167 / 7739
8
 (HPO:0001989) Fetal akinesia sequence rare [HPO:skoehler] 14 / 7739
9
 (HPO:0001623) Breech presentation rare [HPO:skoehler] 16 / 7739
10
 (HPO:0002093) Respiratory insufficiency rare [HPO:skoehler] 410 / 7739
11
 (HPO:0001324) Muscle weakness 859 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (HPO:0003828) Variable expressivity 130 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: