Centronuclear myopathy

General Information (adopted from Orphanet):

Synonyms, Signs: CNM
Number of Symptoms 13
OrphanetNr: 595
OMIM Id:
ICD-10: G71.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital myopathy
 -Rare genetic disease
 -Rare neurologic disease
Ptosis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000298) Mask-like facies Frequent [Orphanet] 44 / 7739
2
 (HPO:0000597) Ophthalmoparesis Frequent [Orphanet] 71 / 7739
3
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
4
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
5
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
6
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
7
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
8
 (HPO:0011025) Abnormality of cardiovascular system physiology Frequent [Orphanet] 41 / 7739
9
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
10
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
11
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
12
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
13
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: