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GENATLAS PHENOTYPE

last update : 03-06-2009

Symbol	PCH2B
Location	3p25.1
Name	pontocerebellar hypoplasia 2B
Corresponding gene	TSEN2
Main clinical features	heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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