- Renal duplication (HP:0000075): A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96190)
- Abnormally large globe (HP:0001090): Diffusely large eye (with megalocornea) without glaucoma. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96190)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96190)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96190)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96190)
- Secundum atrial septal defect (HP:0001684): A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96190)
- Multiple epiphyseal dysplasia (HP:0002654). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96190)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96190)
- Rhizomelic arm shortening (HP:0004991): Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96190)
- Short lower limbs (HP:0006385): Shortening of the legs related to developmental hypoplasia of the bones of the leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96190)
- Abnormal fibular epiphysis morphology (HP:0010593). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96190)
- Posterior plagiocephaly (HP:0011327): Asymmetry of the posterior part of the skull. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96190)
- Schizophrenia (HP:0100753): A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:96190)
These phenotypes are associated with the disease Paternal uniparental disomy of chromosome 5 syndrome (ORPHA:96190).