- Hypospadias (HP:0000047, a Human Phenotype Ontology term): 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. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2252)
- Mandibular prognathia (HP:0000303, a Human Phenotype Ontology term): Abnormal prominence of the chin related to increased length of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2252)
- Micromelia (HP:0002983, a Human Phenotype Ontology term): The presence of abnormally small extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2252)
- Hypoplasia of the radius (HP:0002984, a Human Phenotype Ontology term): Underdevelopment of the radius. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2252)
- Nonopposable triphalangeal thumb (HP:0005725, a Human Phenotype Ontology term): A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2252)
- Abnormal dermatoglyphics (HP:0007477, a Human Phenotype Ontology term): An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:2252)
These phenotypes are associated with the disease Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome (ORPHA:2252, an Orphanet rare-disease identifier).