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GENATLAS PHENOTYPE
last update : 15-09-2017
Symbol MRD4
Location 11q24.2
Name Mental retardation, autosomal dominant 4
Corresponding gene KIRREL3
Main clinical features
  • facial dysmorphic features included alternating exotropia, flat midface, some downslanting of the lower eyelids, thin nasal bridge, rounded nasal tip, nasal septum below the alae nasi, and small chin, short fifth fingers and fingernails, broad and short feet with short toes, and syndactyly of several toes
  • severe mental retardation
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    osteo-articular
    Type disease
    Remark(s)