Disease

spinal muscular atrophy with lower extremity predominant 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.

Synonyms

spinal muscular atrophy with lower extremity predominance 2B

Cross References

MIM:618291

Parent Terms

spinal muscular atrophy with lower extremity predominant

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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