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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 intellectual disability
Charcot-Marie-Tooth disease type 2B1

FKRP LMNA
GMPPB
LARGE
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 intellectual disability
FKRP GMPPB LARGE POMT1 POMT2
Charcot-Marie-Tooth disease type 2B1
LMNA



Congenital muscular dystrophy with intellectual disability
Charcot-Marie-Tooth disease type 2B1

Synonym(s):
- CMD with intellectual disability
- CMD-MR

Synonym(s):
- AR-CMT2B1
- Autosomal recessive Charcot-Marie-Tooth disease type 2B1
- Autosomal recessive axonal CMT4C1

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537990

No signs/symptoms info available.