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Congenital valvular dysplasia
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
1 OMIM reference -
1 associated gene
No signs/symptoms info
Congenital valvular dysplasia
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

FLNA
(UniProt - OMIM)
 DYNC1H1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FLNA
(0.63)
DYNC1H1


Citations in the biomedical literature:


Congenital valvular dysplasia
FLNA
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
DYNC1H1



Congenital valvular dysplasia
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Synonym(s):
(no synonyms)

Synonym(s):
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
- SMALED1
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.