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GENATLAS PHENOTYPE

last update : 02-10-2019

Symbol	DDABMV
Location	6q27
Name	developmental delay, autism, brain malformation, vertebral segmentation defects
Corresponding gene	DLL1
Main clinical features	intellectual disability, autism spectrum disorder, seizures, variable brain malformations, muscular hypotonia, and scoliosis brain malformations included ventriculomegaly, hydrocephalus, abnormalities of the corpus callosum, mild cortical dysplasia, and a small cerebellum/pons
Genetic determination	not applicable
Function/system disorder	mental retardation
	neurology
	osteo-articular
	psychiatry disorder
Type	disease

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