- Abnormality of the inner ear (HP:0000359): An abnormality of the inner ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:107)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:107)
- Abnormality of the middle ear (HP:0000370): An abnormality of the middle ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:107)
- Preauricular pit (HP:0004467): Small indentation anterior to the insertion of the ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:107)
- 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: Frequent (HP:0040282). (ORPHA:107)
- Lop ear (HP:0000394): Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:107)
- Stenosis of the external auditory canal (HP:0000402): An abnormal narrowing of the external auditory canal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:107)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:107)
- Mixed hearing impairment (HP:0000410): A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:107)
- 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:107)
- Abnormality of the middle ear ossicles (HP:0004452): An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:107)
- Hypoplasia of the cochlea (HP:0008586): Developmental hypoplasia of the cochlea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:107)
- Renal hypoplasia/aplasia (HP:0008678): Absence or underdevelopment of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:107)
- Branchial anomaly (HP:0009794): Congenital developmental defect arising from the primitive branchial apparatus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:107)
- Branchial cyst (HP:0009796): A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:107)
- Enlarged vestibular aqueduct (HP:0011387): Increased size of the vestibular aqueduct. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:107)
- Enlarged cochlear aqueduct (HP:0011388): Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:107)
- Aplasia/Hypoplasia of the cochlea (HP:0011395): Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:107)
- Branchial sinus (HP:0100272): A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:107)
- Multicystic kidney dysplasia (HP:0000003): Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Ureteropelvic junction obstruction (HP:0000074): Blockage of urine flow from the renal pelvis to the proximal ureter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Vesicoureteral reflux (HP:0000076): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Abnormality of the outer ear (HP:0000356): An abnormality of the external ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Lacrimal duct aplasia (HP:0007925): A congenital defect resulting in absence of the lacrimal duct. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Euthyroid goiter (HP:0009798): A goiter that is not associated with functional thyroid abnormalities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Facial palsy (HP:0010628): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Abnormal lacrimal duct morphology (HP:0011481): An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Abnormal lateral semicircular canal morphology (HP:0040106). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Gustatory lacrimation (HP:0100274): Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Dilatation of renal calices (HP:0100581): An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:107)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:107)
These phenotypes are associated with the disease BOR syndrome (ORPHA:107).