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5 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Congenital muscular dystrophy with cerebellar involvement
Heart-hand syndrome, Slovenian type

FKRP LMNA
GMPPB
POMGNT1
POMT1
POMT2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GMPPB
(0.63)
LMNA



Citations in the biomedical literature:


Congenital muscular dystrophy with cerebellar involvement
FKRP GMPPB POMGNT1 POMT1 POMT2
Heart-hand syndrome, Slovenian type
LMNA



Congenital muscular dystrophy with cerebellar involvement
Heart-hand syndrome, Slovenian type

Synonym(s):
- CMD with cerebellar involvement
- CMD-CRB

Synonym(s):
- Atrio-digital dysplasia, Slovenian type
- Cardiac conduction disease - dilated cardiomyopathy - brachydactyly

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535852

No signs/symptoms info available.