- Abnormal morphology of female internal genitalia (HP:0000008): An abnormality of the female internal genitalia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:991)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:991)
- Abnormality of the pulmonary artery (HP:0004414): An abnormality of the pulmonary artery. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:991)
- Pulmonary artery hypoplasia (HP:0004971): Underdevelopment of the pulmonary artery. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:991)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:991)
- Multicystic kidney dysplasia (HP:0000003): Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:991)
- Abnormal testis morphology (HP:0000035): An anomaly of the testicle (the male gonad). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:991)
- Ambiguous genitalia (HP:0000062): A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:991)
- Abnormality of the uterus (HP:0000130): An abnormality of the uterus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:991)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:991)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:991)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:991)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:991)
- Agonadism (HP:0008633): Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:991)
- Renal hypoplasia/aplasia (HP:0008678): Absence or underdevelopment of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:991)
- Female pseudohermaphroditism (HP:0010458): Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:991)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:991)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:991)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:991)
- Abnormal clavicle morphology (HP:0000889): Any abnormality of the clavicles (collar bones). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:991)
- Sudden cardiac death (HP:0001645): The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:991)
- Abnormal aortic morphology (HP:0001679): An abnormality of the aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:991)
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:991)
- Abnormality of the spleen (HP:0001743): An abnormality of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:991)
- Encephalocele (HP:0002084): A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:991)
- Abnormality of neuronal migration (HP:0002269): An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:991)
- Spina bifida (HP:0002414): Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:991)
- Meningocele (HP:0002435): Protrusion of the meninges through a defect of the skull or vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:991)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:991)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:991)
- Asymmetric growth (HP:0100555): A growth pattern that displays an abnormal difference between the left and the right side. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:991)
These phenotypes are associated with the disease PAGOD syndrome (ORPHA:991).