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GENATLAS PHENOTYPE

last update : 10-05-2017

Symbol	MRSDF
Location	8q21.3
Name	mental retardation, seizures, dysmorphic features
Corresponding gene	OTUDB6
Main clinical features	intellectual disability syndrome associated with seizures, mostly of the generalized tonic-clonic type, but with varying degrees of severity and dysmorphic features global developmental delay, microcephaly, absent speech, hypotonia, growth retardation with prenatal onset, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features, broad thumbs, joint contractures
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

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