OBO ID: DOID:0080979
Term Name: arthrogryposis multiplex congenita-3 Search Ontology:
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:
Ontology: Human Disease   ( DOID:0080979 )
OTHER arthrogryposis multiplex congenita-3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SYNE1 Arthrogryposis multiplex congenita 3, myogenic type 618484
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None