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GENATLAS PHENOTYPE

last update : 19-10-2017

Symbol	PCH2A
Location	17q25.1
Name	pontocerebellar hypoplasia 2A
Corresponding gene	TSEN54
Main clinical features	abnormally small cerebellum and brainstem, with progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings lethal progressive neurologic disorder with prenatal onset and characteristic abnormalities on CT scanning (marked pontocerebellar hypoplasia and progressive cerebral atrophy)
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	malformation

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