Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

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)