- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): 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: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- 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: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Dolichocephaly (HP:0000268, a Human Phenotype Ontology term): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- 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: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Prominent nasal bridge (HP:0000426, a Human Phenotype Ontology term): Anterior positioning of the nasal root in comparison to the usual positioning for age. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Webbed neck (HP:0000465, a Human Phenotype Ontology term): 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: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Short neck (HP:0000470, a Human Phenotype Ontology term): Diminished length of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Single transverse palmar crease (HP:0000954, a Human Phenotype Ontology term): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Flexion contracture (HP:0001371, a Human Phenotype Ontology term): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Bell-shaped thorax (HP:0001591, a Human Phenotype Ontology term): The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Respiratory insufficiency (HP:0002093, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Delayed gross motor development (HP:0002194, a Human Phenotype Ontology term): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Reduced vital capacity (HP:0002792, a Human Phenotype Ontology term): An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Arthrogryposis multiplex congenita (HP:0002804, a Human Phenotype Ontology term): Multiple congenital contractures in different body areas. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Axial muscle weakness (HP:0003327, a Human Phenotype Ontology term): Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Minicore myopathy (HP:0003789, a Human Phenotype Ontology term): Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Abnormality of the palpebral fissures (HP:0008050, a Human Phenotype Ontology term): An anomaly of the space between the medial and lateral canthi of the two open eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- 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: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Increased endomysial connective tissue (HP:0100297, a Human Phenotype Ontology term): An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscle fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:178148)
- Kyphosis (HP:0002808, a Human Phenotype Ontology term): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:178148)
These phenotypes are associated with the disease Antenatal multiminicore disease with arthrogryposis multiplex congenita (ORPHA:178148, an Orphanet rare-disease identifier).