Term Name: arthrogryposis multiplex congenita-3
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.
Ontology: Human Disease [DOID:0080979]   ( DOID:0080979 )

Relationships
is a type of: arthrogryposis multiplex congenita