ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Autosomal recessive limb-girdle muscular dystrophy type 2B

NPHP3-related Meckel-like syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DYSF	(0.63)	NPHP3

Citations in the biomedical literature:

Autosomal recessive limb-girdle muscular dystrophy type 2B		NPHP3-related Meckel-like syndrome
	Synonym(s): - LGMD2B - Limb-girdle muscular dystrophy due to dysferlin deficiency		Synonym(s): - Goldston syndrome - Meckel syndrome type 7 - Meckel-like syndrome type 1 - Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare renal disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): (no data available)

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

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

NPHP3-related Meckel-like syndrome
	Very frequent - Autosomal recessive inheritance - Dandy-Walker anomaly - Multicystic kidney / renal dysplasia Frequent - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Intestinal / gut / bowel malrotation - Oligoamnios - Polyhydramnios - Structural anomalies of the liver and the biliary tract - Structural anomalies of the pancreas
Autosomal recessive limb-girdle muscular dystrophy type 2B
(no data available)