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distal arthrogryposis syndromes
(phenotype)
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Genetic Markers
Most Correlated Genes
Most Correlated SNPs
LGI4
TNNT3
MYH3
ADAMTS15
ECEL1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
muscle filament sliding
contractile fiber
muscle contraction
MODULE_387
EBAUER_MYOGENIC_TARGETS_OF_PAX3_FOXO1_FUSION
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Curated Studies
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OMIM - Arthrogryposis
OMIM - Congenital disorder
OMIM - Brain CNS Motor Neuron and other Neuropathy Disorders
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Literature
Most Relevant Literature
The Hand in Distal Arthrogryposis.
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal ph…
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Amyoplasia and distal arthrogryposis.
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Clinical Trials
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Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions
Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions
The Effects of Different Procedures on Pain Levels at Preterm and Term Infants in Neonatal Intensive…
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