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GENATLAS PHENOTYPE

last update : 18-09-2017

Symbol	MRD41
Location	3q26.32
Name	mental retardation, autosomal dominant 41
Corresponding gene	TBL1XR1
Main clinical features	global developmental delay, early-onset spastic paraparesis, intellectual disability and autistic features with infantile spasms West syndrome with Rett-like features, together with autistic features
Genetic determination	autosomal dominant
Related entries	including Pierpont syndrome (OMIM: 602342)
Function/system disorder	mental retardation
Type	disease

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