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GENATLAS PHENOTYPE

last update : 17-11-2021

Symbol	MRD1
Location	2q23.1
Name	mental retardation, autosomal dominant 1
Corresponding gene	MBD5
Main clinical features	severe mental retardation, but no facial dysmorphic features with retarded motor development minimal speech, infantile hypotonia, seizures, microcephaly, short stature also seizure type generalized tonic-clonic, focal, atypical absence, tonic, drop attacks, and myoclonic seizures occurred frequently
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
	neurology
Type	disease

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