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GENATLAS PHENOTYPE
last update : 04-03-2019
Symbol MRCLUG
Location 22q13.31
Name mental retardation with cerebral, limb and urogenital anomalies
Corresponding gene FBLN1
Main clinical features
  • limb malformation and undescended testes at birth with mental retardation; delayed speech and motor milestones, epilepsy and encephalopathy; in any cases, ocular abnormalities
  • MRI of the brain showed cortical atrophy and few scattered white matter lesions
  • Genetic determination autosomal recessive
    Function/system disorder eye
    mental retardation
    neurology
    sex-genitalia
    Type disease
    Remark(s)