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Summary
INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (CASGID)
618339
OMIM = Online Medalian Inheritance of Men
555064
2q32.2
very rare
autosomal dominant

symptoms
behavior, self-mutilating or destructive
cataract
developmental delay
hypotonia
microcephaly (<2 SD for age)
myelination, incomplete, hypomyelination
skin defects
laboratory finding
Glutamine mmol/mol Creaurine
Literature
Bai Y,et al.Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature reviewJ Ovarian Res101162017