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last update : 05-07-2017
Symbol PMLD2
Location 2q33.1
Name hypomyelinating leukodystrophy Pelizaeus-Merzbacher-like disease 2
Other name(s)
  • MitCHAP-60 disease
  • leukodystrophy, hypomyelinating, 4
  • Corresponding gene HSPD1
    Other symbol(s) HLD4
    Main clinical features
  • lethal hypomyelinating leukodystrophy, with hypotonia, nystagmus, and psychomotor developmental delay, followed by appearance of prominent spasticity, developmental arrest, and regression, head circumference, which was normal at birth, showed decreased growth rate, seizures, feeding problems commonlyled to malnutrition and growth failure, death usually occurred within the first two decades
  • No major abnormalities were found in nerve conduction and electromyography studies, brain-stem auditory-evoked-potential studies showed increased latency of wave I and absence or small size of later components, denoting brain-stem abnormalities, VEP were abnormal with slowing latency and aberrant wave shape
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease