Female patient with gonadal dysgenesis and severe
neurosensory hearing loss. There may be developmental delay, with the
hearing loss diagnosed during the toddler years. Cognitive function may be
impaired. Progressive nervous system involvement has been observed. It includes severe
sensory and motor neuropathy. Abnormal neurologic findings and signs of cerebellar
dysfunction are common (ataxia, hypotonia, abnormal extraocular muscle movement, and
chorea). Touch and proprioception are normal. Secondary sexual development is absent in
the females and primary amenorrhea may be a presenting complaint. In conjunction with
gonadal dysgenesis and deafness, there have been additional reports of patients having
short stature, nystagmus, limited extraocular movement, and pes equinovarus.