OBO ID: DOID:0080979 |
Term Name: | arthrogryposis multiplex congenita-3 | Search Ontology: | |
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Definition: | An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25. https://pubmed.ncbi.nlm.nih.gov/27782104/ | ||
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Ontology: | Human Disease ( DOID:0080979 ) |
OTHER arthrogryposis multiplex congenita-3 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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