- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. Frequency: 0/16. (PMID:25986071)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 16/16. (PMID:25986071)
- Abnormal middle ear reflexes (HP:0004454). Evidence: PCS. (PMID:25986071)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: PCS. Frequency: 0/16. (PMID:25986071)
- Tinnitus (HP:0000360): Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. Evidence: PCS. Frequency: 12/16. (PMID:25986071)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. (PMID:25986071)
- Sensory axonal neuropathy (HP:0003390): An axonal neuropathy of peripheral sensory nerves. Evidence: PCS. (PMID:25986071)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:25986071)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 16/16. (PMID:25986071)
- Cochlear nerve hypoplasia (HP:0034585): A developmental defect characterized by underdevelopment of the cochlear nerve. Evidence: PCS. Frequency: 7/7. (PMID:25986071)
- Distal sensory impairment (HP:0002936): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: PCS. (PMID:25986071)
- Unsteady gait (HP:0002317). Evidence: PCS. Frequency: 7/16. (PMID:25986071)
- Slowly progressive (HP:0003677): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: PCS. (PMID:25986071)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 4/16. (PMID:25986071)
- 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: 0/16. (PMID:25986071)
- Abnormal speech discrimination (HP:0001963): A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss. Evidence: PCS. (PMID:25986071)
These phenotypes are associated with the disease X-linked hereditary sensory and autonomic neuropathy with hearing loss (OMIM:300614).