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GENATLAS PHENOTYPE

last update : 15-10-2015

Symbol	MRD31
Location	5q31.2
Name	mental retardation, autosomal dominant 31
Corresponding gene	PURA
Main clinical features	neurodevelopmental disorder characterized by neonatal hypotonia, severely delayed psychomotor development, early-onset feeding difficulties, and significant respiratory insufficiency, and also early-onset seizures, often myoclonic, but also generalized mild but variable dysmorphic features, including hypotonic facies, prominent or high forehead, telecanthus, and upslanting palpebral fissures brain MRI showed delayed myelination
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
Type	disease

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