- Cross bite (HP:0033792): Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141132)
- Preauricular skin tag (HP:0000384): A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:141132)
- Limbal dermoid (HP:0001140): A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:141132)
- Hemifacial hypoplasia (HP:0011332): Unilateral underdevelopment of the facial tissues, including muscles and bones. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:141132)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141132)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141132)
- Atresia of the external auditory canal (HP:0000413): Absence or failure to form of the external auditory canal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141132)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141132)
- Spina bifida (HP:0002414): Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141132)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141132)
- Hemivertebrae (HP:0002937): Absence of one half of the vertebral body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141132)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141132)
- Aplasia/Hypoplasia of the maxilla (HP:0009117): Absence or underdevelopment of the maxilla. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141132)
- Aplasia/Hypoplasia of the mandible (HP:0009118): Absence or underdevelopment of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141132)
- Abnormal renal morphology (HP:0012210): Any structural anomaly of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141132)
- Neurodevelopmental delay (HP:0012758): Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141132)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141132)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141132)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141132)
- Coloboma (HP:0000589): A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141132)
- Dental crowding (HP:0000678): Changes in alignment of teeth in the dental arch. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141132)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141132)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141132)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141132)
- Chiari malformation (HP:0002308): Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141132)
- Upper airway obstruction (HP:0002781): Increased resistance to the passage of air in the upper airway. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141132)
- Obstructive sleep apnea (HP:0002870): Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141132)
- Aplasia/Hypoplasia of the corpus callosum (HP:0007370): Absence or underdevelopment of the corpus callosum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141132)
- Anotia (HP:0009892): Complete absence of any auricular structures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141132)
These phenotypes are associated with the disease Oculo-auriculo-vertebral spectrum (ORPHA:141132).