- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Frequency: 3/3. (PMID:33565183)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: PCS. Frequency: 3/3. (PMID:33565183)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Aortic root aneurysm (HP:0002616): An abnormal localized widening (dilatation) of the aortic root. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- 11 pairs of ribs (HP:0000878): Presence of only 11 pairs of ribs. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Aortopulmonary collateral arteries (HP:0031834): Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 2/3. (PMID:33565183)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Pulmonary artery hypoplasia (HP:0004971): Underdevelopment of the pulmonary artery. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Short chin (HP:0000331): Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Aortopulmonary window (HP:0011604): A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Optic nerve hypoplasia (HP:0000609): Underdevelopment of the optic nerve. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Diaphragmatic eventration (HP:0009110): A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development. Evidence: PCS. Frequency: 2/3. (PMID:33565183)
- Aplasia of the left hemidiaphragm (HP:0009112): Congenital absence of the left half of the diaphragm. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:33565183)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Coronal cleft vertebrae (HP:0003417): Frontal schisis (cleft or cleavage) of vertebral bodies. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 2/3. (PMID:33565183)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 1/3. (PMID:33565183)
These phenotypes are associated with the disease diaphragmatic hernia 4, with cardiovascular defects (OMIM:620025).