Ethylmalonic Encephalopathy

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Disease Name 
Ethylmalonic Encephalopathy
Disease Information 

Ethylmalonic Encephalopathy affects several body systems, particularly the nervous system. Neurologic signs and symptoms include progressively delayed development, weak muscle tone, seizures, chronic diarrhea and abnormal movements. Most affected individuals survive only into early childhood.

Test Description 

Specific mutation analysis of the ETHE1 gene (c.505+1G>T, p.R163W, p.R163Q).

Genes