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GENATLAS PHENOTYPE

last update : 12-12-2022

Symbol	VMLDS1
Location	11p15.4
Name	Van Maldergem syndrome 1
Corresponding gene	DCHS1
Main clinical features	intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations; also renal hypoplasia brain MRI typically shows periventricular nodular heterotopia
Genetic determination	autosomal recessive
Function/system disorder	ear
	mental retardation
	osteo-articular
	kidney and urinary tract
	neurology
Type	disease

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