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Congenital myopathy, Paradas type
1 associated gene
48 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Miyoshi myopathy
Familial isolated dilated cardiomyopathy
Digitotalar dysmorphism
Autosomal dominant limb-girdle muscular dystrophy type 1C
Rippling muscle disease
Romano-Ward syndrome
Alström syndrome
Amyotrophic lateral sclerosis
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant limb-girdle muscular dystrophy type 1E
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Childhood-onset nemaline myopathy
Desminopathy
Distal myopathy with posterior leg and anterior hand involvement
Intermediate nemaline myopathy
Muscle filaminopathy
Scapuloperoneal amyotrophy
Severe congenital nemaline myopathy
Typical nemaline myopathy
Aicardi-Goutières syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal recessive centronuclear myopathy
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Bethlem myopathy
Chilblain lupus
Congenital muscular dystrophy, Ullrich type
Corpus callosum agenesis - neuronopathy
Early-onset myopathy with fatal cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Freeman-Sheldon syndrome
Hereditary proximal myopathy with early respiratory failure
Late-onset autosomal recessive medullary cystic kidney disease
Lethal congenital contracture syndrome type 3
NPHP3-related Meckel-like syndrome
Renal-hepatic-pancreatic dysplasia
Senior-Loken syndrome
Sheldon-Hall syndrome
Tibial muscular dystrophy
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dystonia-parkinsonism
Autosomal recessive limb girdle muscular dystrophy type 2A
Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references

Gene symbol UniProt reference OMIM reference
DYSF O75923603009
No signs/symptoms info available.