Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Synonyms: Cerebrorenal syndrome, Perez type
A rare genetic disease characterized by onset of neurological deterioration in the first two years of life progressing to severe intellectual disability profound ataxia mild dyskinesia axial hypotonia camptocormia and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis hypertension and a tendency for hyperkalemia.
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 March 2024
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Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome?
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