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GENATLAS PHENOTYPE

last update : 11-05-2017

Symbol	PCH1B
Location	9p13.2
Name	pontocerebellar hypoplasia, type 1B
Corresponding gene	EXOSC3
Main clinical features	dysmorphic facies, foot deformities, poor feeding, and respiratory insufficiency, with early death severe cerebellar atrophy with absent granular layer, decreased number of Purkinje cells, white matter gliosis, and a paucity of axons; skeletal muscle showed neurogenic atrophy spinal cord examination showed decreased numbers of anterior horn cells
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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