Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0080979 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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