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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
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Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
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For a list of clinical trials in this disease area, please click here.