- Encephalopathy (HP:0001298): Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. Evidence: PCS. Frequency: 2/4. (PMID:37656279)
- 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: 2/4. (PMID:37656279)
- Dilatation of the renal pelvis (HP:0010946): The presence of dilatation of the renal pelvis. Evidence: PCS. Frequency: 1/4. (PMID:37656279)
- Anterior polar cataract (HP:0001134): A polar cataract that affects the anterior pole of the lens. Evidence: PCS. Frequency: 1/4. (PMID:37656279)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 2/4. (PMID:37656279)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: PCS. Frequency: 4/4. (PMID:37656279)
- Moderate to late preterm birth (HP:0025664): Birth at 32 to 36 completed weeks of gestation. Evidence: PCS. Frequency: 4/4. (PMID:37656279)
- Cerebral edema (HP:0002181): Abnormal accumulation of fluid in the brain. Evidence: PCS. Frequency: 1/3. (PMID:37656279)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: PCS. Frequency: 1/1. (PMID:37656279)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. Frequency: 1/1. (PMID:37656279)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: PCS. Frequency: 1/4. (PMID:37656279)
- Eclabion (HP:0012472): A turning outward of the lip or lips, that is, eversion of the lips. Evidence: PCS. Frequency: 2/4. (PMID:37656279)
- Retinopathy of prematurity (HP:0500049): An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness. Evidence: PCS. Frequency: 2/4. (PMID:37656279)
- 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: 1/4. (PMID:37656279)
- Ectropion (HP:0000656): An outward turning (eversion) or rotation of the eyelid margin. Evidence: PCS. Frequency: 3/4. (PMID:37656279)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: PCS. Frequency: 4/4. (PMID:37656279)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 1/4. (PMID:37656279)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 2/3. (PMID:37656279)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 1/4. (PMID:37656279)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 2/2. (PMID:37656279)
- Hypoplastic nasal bridge (HP:0005281). Evidence: PCS. Frequency: 1/4. (PMID:37656279)
- Left-to-right shunt (HP:0012382): Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right. Evidence: PCS. Frequency: 1/4. (PMID:37656279)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: PCS. Frequency: 1/4. (PMID:37656279)
- 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:37656279)
- Congenital nonbullous ichthyosiform erythroderma (HP:0007479): The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales. Evidence: PCS. Frequency: 3/4. (PMID:37656279)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 1/1. (PMID:37656279)
- Shallow orbits (HP:0000586): Reduced depth of the orbits associated with prominent-appearing ocular globes. Evidence: PCS. Frequency: 1/4. (PMID:37656279)
- 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: 3/4. (PMID:37656279)
- Reduced bone mineral density (HP:0004349): A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. Evidence: PCS. Frequency: 2/4. (PMID:37656279)
These phenotypes are associated with the disease xerosis and growth failure with immune and pulmonary dysfunction syndrome (OMIM:620510).