- Abnormal renal collecting system morphology (HP:0004742): An abnormality of the renal collecting system. Evidence: IEA. (OMIM:113650)
- Congenital hip dislocation (HP:0001374). Evidence: IEA. (OMIM:113650)
- 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. (OMIM:113650)
- Preauricular pit (HP:0004467): Small indentation anterior to the insertion of the ear. Evidence: PCS. Frequency: 12/16. (PMID:19206155)
- 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: IEA. (OMIM:113650)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 2/13. (PMID:19206155)
- 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: PCS. Frequency: 1/17. (PMID:19206155)
- Abnormal cerebral morphology (HP:0002060): Any structural abnormality of the telencephalon, which is also known as the cerebrum. Evidence: IEA. (OMIM:113650)
- Enlarged vestibular aqueduct (HP:0011387): Increased size of the vestibular aqueduct. Evidence: PCS. Frequency: 5/15. (PMID:19206155)
- Mild global developmental delay (HP:0011342): A mild delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 2/17. (PMID:19206155)
- Typified by incomplete penetrance (HP:0003829): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: IEA. (OMIM:113650)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: PCS. Frequency: 2/15. (PMID:19206155)
- Renal steatosis (HP:0000799): Abnormal fat accumulation in the kidneys. Evidence: IEA. (OMIM:113650)
- High palate (HP:0000218): 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: 1/17. (PMID:19206155)
- Cupped ear (HP:0000378): Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). Evidence: PCS. Frequency: 6/15. (PMID:19206155)
- Mixed hearing impairment (HP:0000410): A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Evidence: PCS. Frequency: 4/17. (PMID:19206155)
- Polycystic kidney dysplasia (HP:0000113): The presence of multiple cysts in both kidneys. Evidence: IEA. (OMIM:113650)
- Renal malrotation (HP:0004712): An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. Evidence: IEA. (OMIM:113650)
- Dilatated internal auditory canal (HP:0004458): The presence of a dilated inner part of external acoustic meatus. Evidence: IEA. (OMIM:113650)
- Lacrimation abnormality (HP:0000632): Abnormality of tear production. Evidence: IEA. (OMIM:113650)
- Narrow face (HP:0000275): Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). Evidence: TAS. (OMIM:113650)
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: PCS. Frequency: 1/13. (PMID:19206155)
- 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: IEA. (OMIM:113650)
- 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: PCS. Frequency: 1/13. (PMID:19206155)
- Incomplete partition of the cochlea type II (HP:0000376): With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation. Evidence: PCS. Frequency: 1/17. (PMID:19206155)
- Lacrimal duct aplasia (HP:0007925): A congenital defect resulting in absence of the lacrimal duct. Evidence: TAS. (OMIM:113650)
- Long face (HP:0000276): Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). Evidence: TAS. (OMIM:113650)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: IEA. (OMIM:113650)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: IEA. (OMIM:113650)
- Increased overbite (HP:0011094): Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm. Evidence: TAS. (OMIM:113650)
- 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. (OMIM:113650)
- Branchial fistula (HP:0009795): A congenital fistula in the neck resulting from incomplete closure of a branchial cleft. Evidence: PCS. Frequency: 11/16. (PMID:19206155)
- Cholesteatoma (HP:0009797): Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. Evidence: IEA. (OMIM:113650)
- 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: PCS. Frequency: 4/16. (PMID:19206155)
- Hypoplasia of the cochlea (HP:0008586): Developmental hypoplasia of the cochlea. Evidence: PCS. Frequency: 6/15. (PMID:19206155)
- 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: PCS. Frequency: 7/17. (PMID:19206155)
- Euthyroid goiter (HP:0009798): A goiter that is not associated with functional thyroid abnormalities. Evidence: IEA. (OMIM:113650)
- Lacrimal duct stenosis (HP:0007678): Narrowing of a tear duct (lacrimal duct). Evidence: TAS. (OMIM:113650)
- 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:113650)
- Intestinal malrotation (HP:0002566): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: IEA. (OMIM:113650)
- Stenosis of the external auditory canal (HP:0000402): An abnormal narrowing of the external auditory canal. Evidence: TAS. (OMIM:113650)
These phenotypes are associated with the disease branchiootorenal syndrome 1 (OMIM:113650).