Phenotypes associated with the disease split-hand/foot malformation with long bone deficiency 1 (OMIM:119100):
- Absent forearm (HP:0005632). Evidence: IEA. (OMIM:119100)
- Short hallux (HP:0010109): Underdevelopment (hypoplasia) of the big toe. Evidence: IEA. (OMIM:119100)
- Hand monodactyly (HP:0004058). Evidence: TAS. (OMIM:119100)
- Aplasia of the 3rd finger (HP:0009460): Absent 3rd finger. Evidence: TAS. (OMIM:119100)
- Split foot (HP:0001839): A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. Evidence: TAS. (OMIM:119100)
- Aplasia/Hypoplasia of the ulna (HP:0006495): Absence or underdevelopment of the ulna. Evidence: IEA. (OMIM:119100)
- Patellar aplasia (HP:0006443): Absence of the patella. Evidence: TAS. (OMIM:119100)
- Split hand (HP:0001171): A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands. Evidence: TAS. (OMIM:119100)
- Absent tibia (HP:0009556): Absence of the tibia. Evidence: TAS. (OMIM:119100)
- Cupped ear (HP:0000378): Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). Evidence: IEA. (OMIM:119100)
- 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:119100)