- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 2/5. (PMID:30055085)
- Chronic lung disease (HP:0006528): According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. Evidence: PCS. Frequency: 1/1. (PMID:33569873)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: PCS. Frequency: 10/10. (PMID:26036949)
- Single umbilical artery (HP:0001195): Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. Evidence: PCS. Frequency: 1/1. (PMID:33569873)
- Nonimmune hydrops fetalis (HP:0001790): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: PCS. Frequency: 10/10. Onset: Antenatal onset (HP:0030674). (PMID:26036949)
- Nonimmune hydrops fetalis (HP:0001790): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: PCS. Frequency: 5/5. (PMID:30055085)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: PCS. Frequency: 1/1. (PMID:33569873)
- Smooth philtrum (HP:0000319): Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. Evidence: PCS. Frequency: 2/5. (PMID:30055085)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 2/5. (PMID:30055085)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 3/6. (PMID:30055085;PMID:33569873)
- Retinopathy of prematurity (HP:0500049): An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness. Evidence: PCS. Frequency: 1/1. (PMID:33569873)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: PCS. Frequency: 2/5. (PMID:30055085;PMID:33569873)
- Unilateral deafness (HP:0009900): A unilateral absence of sensory perception of sound. Evidence: PCS. Frequency: 1/1. (PMID:33569873)
- Lymphedema (HP:0001004): Localized fluid retention and tissue swelling caused by a compromised lymphatic system. Evidence: PCS. Frequency: 0/5. (PMID:30055085)
- Cavernous hemangioma (HP:0001048): The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma. Evidence: PCS. Frequency: 1/1. (PMID:33569873)
- Hemangioma (HP:0001028): A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). Evidence: PCS. Frequency: 4/5. (PMID:30055085)
- Fetal pericardial effusion (HP:0025671): An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms. Evidence: PCS. Frequency: 0/5. (PMID:30055085)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: PCS. Frequency: 5/5. (PMID:30055085)
- Hydrocele testis (HP:0000034): Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. Evidence: PCS. Frequency: 3/5. (PMID:30055085)
- Fetal pleural effusion (HP:0025676): Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops. Evidence: PCS. Frequency: 4/5. (PMID:30055085)
- 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: 1/1. (PMID:33569873)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 2/5. (PMID:30055085)
- Second trimester onset (HP:0034198): This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive). Evidence: PCS. Frequency: 4/4. (PMID:30055085;PMID:33569873)
- 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:26036949)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: PCS. Frequency: 1/5. (PMID:30055085)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: PCS. Frequency: 3/5. (PMID:30055085;PMID:33569873)
- Mitral regurgitation (HP:0001653): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: PCS. Frequency: 2/4. (PMID:30055085)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 2/4. (PMID:30055085)
These phenotypes are associated with the disease lymphatic malformation 13 (OMIM:620244).