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Human Disease

spinal muscular atrophy with lower extremity predominant 2B

Term ID
DOID:0070350
Synonyms
  • spinal muscular atrophy with lower extremity predominance 2B
Definition
A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. https://pubmed.ncbi.nlm.nih.gov/28635954/
References
Ontology
Human Disease   ( DOID:0070350 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models