- Abnormality of the hand (HP:0001155): An abnormality affecting one or both hands. Evidence: IEA. (OMIM:192430)
- Velopharyngeal insufficiency (HP:0000220): Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. Evidence: PCS. Frequency: 38/38. (PMID:1956057)
- Unilateral primary pulmonary dysgenesis (HP:0006549). Evidence: IEA. (OMIM:192430)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 3/38. (PMID:1956057)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 24/38. (PMID:1956057)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: IEA. (OMIM:192430)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 29/38. (PMID:1956057)
- Interrupted aortic arch (HP:0011611): Non-continuity of the arch of aorta with an atretic point or absent segment. Evidence: PCS. Frequency: 2/16. Onset: Congenital onset (HP:0003577). (PMID:1956057)
- Paranoia (HP:0011999): The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment. Evidence: TAS. (OMIM:192430)
- Retinal vascular tortuosity (HP:0012841): An increased number of twists and turns of the retinal blood vessels. This can affect either arteries, veins or both. Evidence: TAS. (OMIM:192430)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. (OMIM:192430)
- Ventricular septal defect (HP:0001629): 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. (PMID:1956057)
- Aggressive behavior (HP:0000718): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: TAS. (OMIM:192430)
- Emotional lability (HP:0000712): Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. Evidence: TAS. (OMIM:192430)
- Specific learning disability (HP:0001328): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: IEA. (OMIM:192430)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: IEA. (OMIM:192430)
- Pulmonary artery atresia (HP:0004935): A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. Evidence: PCS. Frequency: 2/16. (PMID:1956057)
- Abnormality of the ear (HP:0000598): An abnormality of the ear. Evidence: IEA. (OMIM:192430)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: IEA. (OMIM:192430)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 31/38. (PMID:1956057)
- Submucous cleft hard palate (HP:0000176): Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. Evidence: PCS. Frequency: 15/38. (PMID:1956057)
- Cleft palate (HP:0000175): 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: 7/38. (PMID:1956057)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (OMIM:192430)
- Talipes (HP:0001883): A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. Evidence: PCS. Frequency: 4/38. (PMID:1956057)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: IEA. (OMIM:192430)
- Open mouth (HP:0000194): A facial appearance characterized by a permanently or nearly permanently opened mouth. Evidence: IEA. (OMIM:192430)
- Narrow palpebral fissure (HP:0045025): Reduction in the vertical distance between the upper and lower eyelids. Evidence: IEA. (OMIM:192430)
- Abnormal T cell physiology (HP:0011840): A functional anomaly of T cells. Evidence: PCS. Frequency: 2/38. (PMID:1956057)
- Hypoparathyroidism (HP:0000829): A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. Evidence: PCS. Frequency: 3/38. (PMID:1956057)
- Double aortic arch (HP:0011590): A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). Evidence: PCS. Frequency: 1/16. Onset: Congenital onset (HP:0003577). (PMID:1956057)
- Posterior embryotoxon (HP:0000627): A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe. Evidence: IEA. (OMIM:192430)
- Right aortic arch with mirror image branching (HP:0002627): The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery. Evidence: IEA. (OMIM:192430)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: PCS. Frequency: 3/16. (PMID:1956057)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: PCS. Frequency: 2/38. (PMID:1956057)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 5/38. (PMID:1956057)
- Pierre-Robin sequence (HP:0000201): Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. Evidence: TAS. (OMIM:192430)
- Autosomal dominant inheritance (HP:0000006): 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: IEA. (OMIM:192430)
- Cryptorchidism (HP:0000028): 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: IEA. Frequency: 3/38. Onset: Congenital onset (HP:0003577). (PMID:1956057)
- Hypernasal speech (HP:0001611): A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages. Evidence: IEA. (OMIM:192430)
These phenotypes are associated with the disease velocardiofacial syndrome (OMIM:192430).