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Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

MONDO:0014455

Also known as: CAGSSS, cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia

19 clinical trials for this condition and its sub-types, 0 tagged with Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome itself.

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Where it sits in the disease tree

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↑ Hereditary peripheral neuropathy (479) ↑ Hereditary endocrine growth disease (196) ↑ Mitochondrial oxidative phosphorylation disorder (58) ↑ Spondyloepiphyseal dysplasia (8)

Including sub-types (19) Tagged with Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (0)

Trials to join now! 9 Not yet recruiting 1 Not yet finished but already full! 4 Completed 3 Terminated 2

New DNA test could end years of uncertainty for mitochondrial disease patients

Diagnosis Not yet recruiting

This pilot study aims to develop a new digital PCR technique to more accurately diagnose mitochondrial diseases. Researchers will test the method on blood, urine, saliva, and muscle fiber samples from 4 patients. If validated, the technique could be faster and cheaper than curren…

Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis

Last updated Jun 27, 2026 12:04 UTC