arthrogryposis multiplex congenita-3

Term ID

DOID:0080979

Synonyms

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/

References

• OMIM:618484

Ontology

Human Disease   ( DOID:0080979 )