- Cavum septum pellucidum (HP:0002389, a Human Phenotype Ontology term): If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. Evidence: PCS. Frequency: 2/3. (PMID:37057673)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/3. (PMID:37057673)
- Nonimmune hydrops fetalis (HP:0001790, a Human Phenotype Ontology term): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: PCS. Frequency: 2/4. (PMID:27234373;PMID:37057673)
- Elevated circulating alanine aminotransferase concentration (HP:0031964, a Human Phenotype Ontology term): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 4/4. (PMID:27234373;PMID:37057673)
- Severely reduced left ventricular ejection fraction (HP:0012666, a Human Phenotype Ontology term): A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent. Evidence: PCS. Frequency: 4/4. (PMID:27234373;PMID:37057673)
- Cataract (HP:0000518, a Human Phenotype Ontology term): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 2/4. (PMID:27234373;PMID:37057673)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. (PMID:27234373)
- Ventricular septal defect (HP:0001629, a Human Phenotype Ontology term): 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:37057673)
- Prominent forehead (HP:0011220, a Human Phenotype Ontology term): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 1/1. (PMID:27234373)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 1/4. (PMID:27234373;PMID:37057673)
- Hyperammonemia (HP:0001987, a Human Phenotype Ontology term): An increased concentration of ammonia in the blood. Evidence: PCS. Frequency: 1/3. (PMID:37057673)
- Hypoglycemia (HP:0001943, a Human Phenotype Ontology term): A decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 1/1. (PMID:27234373)
- Subependymal cysts (HP:0002416, a Human Phenotype Ontology term): Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life. Evidence: PCS. Frequency: 1/3. (PMID:37057673)
- Pachygyria (HP:0001302, a Human Phenotype Ontology term): Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. Evidence: PCS. Frequency: 1/3. (PMID:37057673)
- Macrocephaly (HP:0000256, a Human Phenotype Ontology term): 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: 1/1. (PMID:27234373)
- Premature rupture of membranes (HP:0001788, a Human Phenotype Ontology term): Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. Evidence: PCS. Frequency: 1/3. (PMID:37057673)
- Dilated cardiomyopathy (HP:0001644, a Human Phenotype Ontology term): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: PCS. Frequency: 3/3. (PMID:37057673)
- Neonatal onset (HP:0003623, a Human Phenotype Ontology term): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/3. (PMID:37057673)
- Downslanted palpebral fissures (HP:0000494, a Human Phenotype Ontology term): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 1/1. (PMID:27234373)
- Elevated circulating aspartate aminotransferase concentration (HP:0031956, a Human Phenotype Ontology term): The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 4/4. (PMID:27234373;PMID:37057673)
- Cardiomegaly (HP:0001640, a Human Phenotype Ontology term): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: PCS. Frequency: 1/1. Onset: Third trimester onset (HP:0034197, a Human Phenotype Ontology term). (PMID:27234373)
- Microspherophakia (HP:0030961, a Human Phenotype Ontology term): Microspherophakia is a rare congenital anomaly characterized by the abnormal spherical shape of the crystalline lens. It is characterized by an increased anteroposterior thickness of the lens associated with reduced equatorial diameter. The primary pathology lies in the development of zonules. The condition is often bilateral and is characterized by small, thick, and spherical lenses. Evidence: PCS. Frequency: 1/3. (PMID:37057673)
- Secundum atrial septal defect (HP:0001684, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/3. (PMID:37057673)
- Feeding difficulties (HP:0011968, a Human Phenotype Ontology term): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 1/3. (PMID:37057673)
- Increased circulating lactate concentration (HP:0002151, a Human Phenotype Ontology term): Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). Evidence: PCS. Frequency: 4/4. (PMID:27234373;PMID:37057673)
- Optic nerve hypoplasia (HP:0000609, a Human Phenotype Ontology term): Underdevelopment of the optic nerve. Evidence: PCS. Frequency: 1/3. (PMID:37057673)
- Third trimester onset (HP:0034197, a Human Phenotype Ontology term): This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond. Evidence: PCS. Frequency: 1/1. (PMID:27234373)
- Death in childhood (HP:0003819, a Human Phenotype Ontology term): Death in during childhood, defined here as between the ages of 2 and 10 years. Evidence: PCS. Frequency: 1/1. (PMID:27234373)
- Congestive heart failure (HP:0001635, a Human Phenotype Ontology term): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: PCS. Frequency: 4/4. (PMID:27234373;PMID:37057673)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:27234373)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): 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: 1/4. (PMID:27234373;PMID:37057673)
- Polymicrogyria (HP:0002126, a Human Phenotype Ontology term): Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). Evidence: PCS. Frequency: 1/3. (PMID:37057673)
These phenotypes are associated with the disease Long-Olsen-Distelmaier syndrome (OMIM:620609, an entry in Online Mendelian Inheritance in Man).