Autosomal dominant centronuclear myopathy

General Information (adopted from Orphanet):

Synonyms, Signs: AD-CNM
Number of Symptoms 13
OrphanetNr: 169189
OMIM Id: 160150
614408
ICD-10: G71.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Infancy
Childhood
Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Centronuclear myopathy
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005335) Sleepy facial expression 1 / 7739
2
 (HPO:0010628) Facial palsy 146 / 7739
3
 (HPO:0000508) Ptosis 459 / 7739
4
 (HPO:0000544) External ophthalmoplegia 40 / 7739
5
 (HPO:0001284) Areflexia 198 / 7739
6
 (HPO:0001270) Motor delay 322 / 7739
7
 (HPO:0003388) Easy fatigability 34 / 7739
8
 (HPO:0001371) Flexion contracture 220 / 7739
9
 (HPO:0003712) Skeletal muscle hypertrophy rare [HPO] 42 / 7739
10
 (HPO:0003687) Centrally nucleated skeletal muscle fibers 15 / 7739
11
 (HPO:0003701) Proximal muscle weakness 105 / 7739
12
 (HPO:0003677) Slow progression 134 / 7739
13
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: