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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
11 OMIM references -
13 associated genes
No signs/symptoms info
Severe congenital nemaline myopathy
Romano-Ward syndrome

ACTA1 AKAP9
KLHL40 ALG10
KLHL41 ANK2
NEB CAV3
KCNE1
KCNE2
KCNH2
KCNJ5
KCNQ1
NOS1AP
SCN4B
SCN5A
SNTA1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NEB
(0.63)
SNTA1



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Romano-Ward syndrome
AKAP9 ALG10 ANK2 CAV3 KCNE1 KCNE2
KCNH2 KCNJ5 KCNQ1 NOS1AP SCN4B SCN5A
SNTA1



Severe congenital nemaline myopathy
Romano-Ward syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Romano-Ward long QT syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
11 OMIM references -
1 MeSH reference: D029597

No signs/symptoms info available.