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

• OMIM:618291

Ontology

Human Disease   ( DOID:0070350 )