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GENATLAS PHENOTYPE
last update : 03-06-2014
Symbol BCPMG
Location 5q13.2
Name band-like calcification with simplified gyration and polymicrogyria
Other name(s) pseudo-TORCH" syndrome.
Corresponding gene OCLN
Other symbol(s) BLC-PMG
Main clinical features
  • early-onset seizures, severe microcephaly, and developmental arrest with bilateral, symmetrical polymicrogyria (PMG) and a band of gray matter calcification on brain imaging
  • also cases with severely delayed psychomotor development, cortical visual impairment, early-onset seizures, and chronic renal dysfunction with small echogenic kidneys, consistent with cortical calcifications, with or without neuronal migration defect
    • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/loss of function  
    Remark(s)