Phenotypes associated with the disease Guttmacher syndrome (OMIM:176305):
- Glanular hypospadias (HP:0000807): A type of hypospadias in which the urethral meatus is located at the head of the penis, but not all the way at the tip. Evidence: PCS. Frequency: 2/2. (PMID:11968094)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: PCS. Frequency: 3/3. (PMID:11968094)
- Short 5th finger (HP:0009237): Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. Evidence: PCS. (PMID:11968094)
- Short 2nd toe (HP:0001885): Underdevelopment (hypoplasia) of the second toe. Evidence: PCS. Frequency: 3/3. (PMID:11968094)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: PCS. Frequency: 3/3. (PMID:11968094)
- 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: PCS. (PMID:11968094)