This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior.
Comprehensive, easy-to-understand information about this condition
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Neu-Laxova syndrome
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inclusion body myopathy with Paget disease of bone and frontotemporal dementia
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syndromic intellectual disability
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fibrogenesis imperfecta ossium
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Fanconi renotubular syndrome
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