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GENATLAS PHENOTYPE
last update : 08-11-2017
Symbol BGMR
Location Xq28
Name basal ganglion disorder with mental retardation
Other name(s) Waisman syndrome
Corresponding gene RAB39B
Other symbol(s) WSMN, PARKX
Main clinical features
  • X-linked neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease; megalencephaly and early-onset parkinsonism
  • delayed psychomotor development with speech and language delay and persistent frontal lobe reflexes; in the second decade of life, the patients developed extrapyramidal signs, including cogwheel rigidity, tremor, slurred speech, shuffling gait, and postural changes; some patients had choreoathetoid movements
  • Genetic determination sex linked
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)