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GENATLAS PHENOTYPE
last update : 20-09-2017
Symbol CONDBA
Location 17q21.31
Name neurodegeneration, childhood-onset, with brain atrophy
Corresponding gene UBTF
Main clinical features
  • severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years; affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability
  • brain imaging shows cerebral and cerebellar atrophy
  • head circumference percentiles, normal at birth, declined over time, but no other systems were involved
  • Genetic determination not applicable
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)
  • heterozygous c.628G>A variant in UBTF; in cells of an affected individual, the variant conferred gain of function to UBTF with the subsequent production of markedly increased amount of rRNA and alteration of nucleoli size and number (PMID: 28777933))