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GENATLAS PHENOTYPE

last update : 14-10-2016

Symbol	PMPCAD
Location	9q34.3
Name	peptidase (mitochondrial processing) alpha deficiency
Corresponding gene	PMPCA
Main clinical features	multisystem involvement including profound global developmental delay, severe hypotonia and weakness, respiratory insufficiency, blindness, and lactic acidemia diffuse cerebellar atrophy, generalized hypotonia due to defect at the neuromuscular junction, hydrocephalus, mitochondrial encephalopathy
Genetic determination	autosomal recessive
Function/system disorder	multisystem/generalized
Type	disease

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