Nathalie syndrome

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Nathalie syndrome

Synonyms: Deafness-cataract-skeletal anomalies syndrome | Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome

A rare genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment childhood-onset cataract underdeveloped secondary sexual characteristics spinal muscular atrophy growth retardation and cardiac and skeletal anomalies. Sudden death as well as fatal cardiomyopathy and heart failure have been described in some cases.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Nathalie syndrome?

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Advocacy Organizations

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

Clinical Trials

For a list of clinical trials in this disease area, please click here.