- Narrow forehead (HP:0000341, a Human Phenotype Ontology term): Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). Evidence: PCS. Frequency: 1/3. (PMID:26733463)
- Tented upper lip vermilion (HP:0010804, a Human Phenotype Ontology term): Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. Evidence: PCS. Frequency: 1/1. (PMID:31260566)
- Long philtrum (HP:0000343, a Human Phenotype Ontology term): 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: 1/3. (PMID:26733463)
- Pulmonary hypoplasia (HP:0002089, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/3. Onset: Antenatal onset (HP:0030674, a Human Phenotype Ontology term). (PMID:26733463)
- Pulmonary hypoplasia (HP:0002089, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 0/1. (PMID:30403323)
- Failure to thrive in infancy (HP:0001531, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:30403323)
- Renal hypoplasia (HP:0000089, a Human Phenotype Ontology term): Hypoplasia of the kidney. Evidence: PCS. Frequency: 1/1. (PMID:30403323)
- Myopathy (HP:0003198, a Human Phenotype Ontology term): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: PCS. Frequency: 2/2. (PMID:31260566;PMID:30403323)
- Generalized hypotonia (HP:0001290, a Human Phenotype Ontology term): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: PCS. Frequency: 1/1. (PMID:30403323)
- Narrow jaw (HP:0012801, a Human Phenotype Ontology term): Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective). Evidence: PCS. Frequency: 1/1. (PMID:31260566)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 2/2. (PMID:31260566;PMID:30403323)
- Smooth philtrum (HP:0000319, a Human Phenotype Ontology term): 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: 1/1. (PMID:31260566)
- Overlapping toe (HP:0001845, a Human Phenotype Ontology term): Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent. Evidence: PCS. Frequency: 2/3. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:26733463)
- Fetal akinesia sequence (HP:0001989, a Human Phenotype Ontology term): Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). Evidence: PCS. Onset: Antenatal onset (HP:0030674, a Human Phenotype Ontology term). (PMID:26733463)
- High palate (HP:0000218, a Human Phenotype Ontology term): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 1/1. (PMID:30403323)
- Clinodactyly (HP:0030084, a Human Phenotype Ontology term): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: PCS. Frequency: 1/1. (PMID:30403323)
- Narrow chest (HP:0000774, a Human Phenotype Ontology term): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: PCS. Frequency: 1/1. (PMID:31260566)
- Cystic hygroma (HP:0000476, a Human Phenotype Ontology term): A cystic lymphatic lesion of the neck. Evidence: PCS. Frequency: 2/3. Onset: Antenatal onset (HP:0030674, a Human Phenotype Ontology term). (PMID:26733463)
- Hand clenching (HP:0001188, a Human Phenotype Ontology term): An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted. Evidence: PCS. Frequency: 1/3. (PMID:26733463)
- 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: 1/3. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:26733463)
- 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:30403323)
- 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:31260566)
- Polyhydramnios (HP:0001561, a Human Phenotype Ontology term): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 2/3. Onset: Antenatal onset (HP:0030674, a Human Phenotype Ontology term). (PMID:26733463)
- Polyhydramnios (HP:0001561, a Human Phenotype Ontology term): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 1/1. (PMID:31260566)
- Cleft palate (HP:0000175, a Human Phenotype Ontology term): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 3/3. Onset: Antenatal onset (HP:0030674, a Human Phenotype Ontology term). (PMID:26733463)
- Short chin (HP:0000331, a Human Phenotype Ontology term): Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. Evidence: PCS. Frequency: 2/3. Onset: Antenatal onset (HP:0030674, a Human Phenotype Ontology term). (PMID:26733463)
- Respiratory tract infection (HP:0011947, a Human Phenotype Ontology term): An infection of the upper or lower respiratory tract. Evidence: PCS. Frequency: 1/1. (PMID:30403323)
- Distal arthrogryposis (HP:0005684, a Human Phenotype Ontology term): An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function. Evidence: PCS. Frequency: 1/1. (PMID:31260566)
- Ureteropelvic junction obstruction (HP:0000074, a Human Phenotype Ontology term): Blockage of urine flow from the renal pelvis to the proximal ureter. Evidence: PCS. Frequency: 1/3. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:26733463)
- Tapered finger (HP:0001182, a Human Phenotype Ontology term): The gradual reduction in girth of the finger from proximal to distal. Evidence: PCS. Frequency: 1/3. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:26733463)
- Respiratory insufficiency (HP:0002093, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:30403323)
- Overlapping fingers (HP:0010557, a Human Phenotype Ontology term): A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. Evidence: PCS. Frequency: 1/3. Onset: Antenatal onset (HP:0030674, a Human Phenotype Ontology term). (PMID:26733463)
- Overlapping fingers (HP:0010557, a Human Phenotype Ontology term): A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. Evidence: PCS. Frequency: 1/1. (PMID:30403323)
- Diaphragmatic eventration (HP:0009110, a Human Phenotype Ontology term): 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: 1/3. Onset: Antenatal onset (HP:0030674, a Human Phenotype Ontology term). (PMID:26733463)
- Telecanthus (HP:0000506, a Human Phenotype Ontology term): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: PCS. Frequency: 1/1. (PMID:31260566)
- Underdeveloped supraorbital ridges (HP:0009891, a Human Phenotype Ontology term): Flatness of the supraorbital portion of the frontal bones. Evidence: PCS. Frequency: 1/1. (PMID:31260566)
- Ptosis (HP:0000508, a Human Phenotype Ontology term): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: PCS. Frequency: 1/1. (PMID:30403323)
- Pectus excavatum (HP:0000767, a Human Phenotype Ontology term): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: 1/1. (PMID:31260566)
- Autosomal recessive inheritance (HP:0000007, 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 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:26733463)
- High forehead (HP:0000348, a Human Phenotype Ontology term): An abnormally increased height of the forehead. Evidence: PCS. Frequency: 1/3. (PMID:26733463)
- Dental malocclusion (HP:0000689, a Human Phenotype Ontology term): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: PCS. Frequency: 1/1. (PMID:30403323)
- Esotropia (HP:0000565, a Human Phenotype Ontology term): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: PCS. Frequency: 1/1. (PMID:31260566)
- Proptosis (HP:0000520, a Human Phenotype Ontology term): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 1/1. (PMID:30403323)
- Mandibular prognathia (HP:0000303, a Human Phenotype Ontology term): Abnormal prominence of the chin related to increased length of the mandible. Evidence: PCS. Frequency: 1/1. (PMID:30403323)
- Triangular face (HP:0000325, a Human Phenotype Ontology term): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: PCS. Frequency: 2/2. (PMID:31260566;PMID:30403323)
- 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: 1/1. (PMID:31260566)
- Hydronephrosis (HP:0000126, a Human Phenotype Ontology term): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 1/3. Onset: Antenatal onset (HP:0030674, a Human Phenotype Ontology term). (PMID:26733463)
These phenotypes are associated with the disease myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies (OMIM:618975, an entry in Online Mendelian Inheritance in Man).