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GENATLAS PHENOTYPE
last update : 14-01-2019
Symbol HLD7
Location 10q22.3
Name leukodystrophy, hypomyelinating, 7
Other name(s)
  • Tremor-ataxia with central hypomyelination leukodystrophy
  • 4H syndrome
  • Corresponding gene POLR3A
    Other symbol(s) TACH
    Main clinical features
  • neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, dystonia and cerebellar signs, as well as mild cognitive regression, with or without oligodontia and/or hypogonadotropic hypogonadism; facial dysmorphy with downward slanting palpebral fissures, low set ears, smooth philtrum, hypodontia
  • brain MRI showed central hypomyelination and cerebellar atrophy
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    dermatology
    Type disease
    Remark(s)