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GENATLAS PHENOTYPE
last update : 12-05-2015
Symbol MCHM
Location 1q42.12
Name microcephaly and hypomyelination
Other name(s) Leukodystrophy, hypomyelinating,10
Corresponding gene PYCR2
Other symbol(s) HLD10
Main clinical features
  • microcephaly, hypomyelination, and reduced white-matter volume, intellectual disability and mental retardation, growth retardation
  • brain MRI, which revealed similar features, including microcephaly with decreased cerebral white-matter volume (with associated thin corpus callosum, thin brain stem, and mild ventriculomegaly) and significant hypomyelination
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)