In a Turkish patient with isolated NPHP7, Halbritter et al. (2013) identified a homozygous mutation in the GLIS2 gene (C175R; 608539.0002). [ncbi.nlm.nih.gov]

JS is an autosomal recessive neurological disorder that associates congenital hypotonia evolving into cerebellar ataxia, developmental delay, oculomotor apraxia, and abnormal breathing pattern during the first month of life. [doi.org]

The son was delivered normally without any respiratory abnormality, and from his first months of life had pendular nystagmus. [academic.oup.com]

If one accepts that our patients suffered from this condition with delayed onset, the relatively mild clinical course might possibly point to an environmental factor playing a beneficial role in delaying the progression to end‐stage renal disease. [academic.oup.com]

Liver enzymology, CT, and MRI of the upper abdomen gave no evidence of liver dysfunction. The ophthalmologic examination showed nystagmus, difficulty in nocturnal vision with severe visual impairment (1/10 of normal vision). [academic.oup.com]

Liver dysfunction has been reported in some patients but it is uncertain if this is coincidental or a part of the SLNS disorder. [disorders.eyes.arizona.edu]

The fetus had dysmorphic features consistent with Potter facies and flexion contractures of multiple joints. There was complete situs inversus of the thoracic and abdominal organs. [ncbi.nlm.nih.gov]

The son was delivered normally without any respiratory abnormality, and from his first months of life had pendular nystagmus. [academic.oup.com]

Ocular examination revealed enophthalmos OU, poor light perception, intraocular pressure of 15 mmHg, sluggish direct and consensual pupillary responses, photophobia, and pendular nystagmus. [healio.com]