Phenotypes associated with the disease coloboma of macula-brachydactyly type B syndrome (OMIM:120400):
- Type B brachydactyly (HP:0005831). Evidence: IEA. (OMIM:120400)
- Aplasia of distal finger phalanx (HP:0009881). Evidence: TAS. (OMIM:120400)
- Broad distal phalanx of the thumb (HP:0009642): Increased width of the distal phalanx of thumb. Evidence: TAS. (OMIM:120400)
- Bifid distal phalanx of the thumb (HP:0009611): Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. Evidence: TAS. (OMIM:120400)
- 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:120400)
- Coloboma (HP:0000589): A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. Evidence: TAS. (OMIM:120400)
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: TAS. (OMIM:120400)