| Metadata | |
|---|---|
| ID | DOID:0080979 |
| Name | arthrogryposis multiplex congenita-3 |
| 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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