ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Autosomal recessive limb-girdle muscular dystrophy type 2C

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SGCG	(0.56)	EP300

Citations in the biomedical literature:

Autosomal recessive limb-girdle muscular dystrophy type 2C		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
	Synonym(s): - Gamma-sarcoglycanopathy - LGMD2C - Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease

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

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

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

No signs/symptoms info available.