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GENATLAS PHENOTYPE

last update : 26-08-2016

Symbol	PCH6
Location	6q16.1
Name	pontocerebellar hypoplasia 6
Corresponding gene	RARS2
Other symbol(s)	PCH4
Main clinical features	infantile encephalopathy with putative defect in mitochondrial translation, generalized hypotonia and poor sucking at MRI, cerebellar and vermian hypoplasia but normal brain volume, with intractable seizures resistant to multidrug therapy, failure to thrive because of poor sucking and gastroesophageal reflux pontine atrophy, vermian hypoplasia, infantile encephalopathy, generalized hypotonia, and intractable seizures early death
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	malformation

Remark(s)