Phenotypes associated with the disease radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome (OMIM:179250):
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. (OMIM:179250)
- Nonopposable triphalangeal thumb (HP:0005725): A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand. Evidence: IEA. (OMIM:179250)
- 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:179250)
- Diastema (HP:0000699): Increased space between two adjacent teeth in the same dental arch. Evidence: IEA. (OMIM:179250)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: IEA. (OMIM:179250)