Phenotypes associated with the disease posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome (OMIM:192800):
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:192800)
- Congenital ptosis (HP:0007970). Evidence: IEA. (OMIM:192800)
- Posterior fusion of lumbosacral vertebrae (HP:0005626): Bony fusion of the posterior part of the L5 vertebral body with the sacrum. Evidence: IEA. (OMIM:192800)
- 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: IEA. (OMIM:192800)