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GENATLAS PHENOTYPE

last update : 28-08-2014

Symbol	PTBHS
Location	18p11.31
Name	Poretti-Boltshauser syndrome
Corresponding gene	LAMA1
Main clinical features	cerebellar dysplasia, cerebellar vermis atrophy, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities cerebellar ataxia, intellectual disability, mental retardation and delayed language development, oculomotor apraxia and myopia brain imaging showed cortical-subcortical cerebellar cysts and cerebellar dysplasia.
Genetic determination	autosomal recessive
Function/system disorder	neurology
	eye
Type	disease

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