Flynn-Aird syndrome

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A rare genetic disease characterized by childhood onset of bilateral progressive sensorineural hearing loss ocular anomalies (myopia cataract retinitis pigmentosa) central and peripheral nervous system features (dementia epilepsy ataxia peripheral neuropathy) ectodermal features (skin atrophy alopecia dental caries) and skeletal anomalies (bone cysts joint stiffness scoliosis kyphosis). Laboratory examination may reveal elevated cerebrospinal fluid protein.

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 Data version May 2024

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Flynn-Aird syndrome?

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