Phenotypes associated with the disease spinal muscular atrophy, segmental (OMIM:183020):
- Abnormal anterior horn cell morphology (HP:0006802): Any anomaly of the anterior horn cell. Evidence: IEA. (OMIM:183020)
- Hand muscle atrophy (HP:0009130): Muscular atrophy involving the muscles of the hand. Evidence: IEA. (OMIM:183020)
- Segmental spinal muscular atrophy (HP:0009037). Evidence: IEA. (OMIM:183020)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:183020)