| Metadata | |
|---|---|
| ID | DOID:0070350 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/28635954/ |
| Xrefs | |
| Synonyms |
spinal muscular atrophy with lower extremity predominance 2B [EXACT] |
| Parent Relationships |
is_a spinal muscular atrophy with lower extremity predominant |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |