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GENATLAS PHENOTYPE

last update : 07-06-2019

Symbol	DOSBF
Location	5q32
Name	dysosteosclerosis with brain malformations
Corresponding gene	CSF1R
Main clinical features	Dandy-Walker malformation, scattered periventricular calcifications, corpus callosum agenesis, facial dysmorphisms, mental retardation bone abnormalities with narrow, bell-shaped thorax and pectus carinatum; joint restrictions at the elbow and ankle joints; skeletal changes were compatible with that of dysosteosclerosis MRI studies disclosed multiple malformation of frontal lobe, hypogenesis of cerebral cortex, and corpus callosum with enlarged ventricle
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
	osteo-articular
Type	disease

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