Preferred Label : neuroaxonal dystrophy renal tubular acidosis;

MeSH note : CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentrate or acidify the urine, with growth delay;

MeSH synonym : maccario mena weir syndrome;

Details


Main resources

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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2675
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neuroaxonal dystrophies
syndrome
Neuroaxonal dystrophy renal tubular acidosis
acidosis
neuroaxonal dystrophy renal tubular acidosis

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02/05/2025


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