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Summary
HYPERMANGANESEMIA WITH DYSTONIA 2 (HMNDYT2)
MANGANESE TRANSPORTER DFECT HMNDYT2
617013
OMIM = Online Medalian Inheritance of Men
8p21.3
rare
autosomal recessive
mutation in the SLC39A14 gene (zinc transporter)
symptoms
cerebellar atrophy or hypoplasia
cerebral atrophy
contractures, joints
developmental delay
dystonia
hyperreflexia
hypertonia, spasticity
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
learning disability
microcephaly (<2 SD for age)
onset, infancy
Parkinsonism
scoliosis
tremor or twitching
laboratory finding
MRI, brain, abnormalities -
Manganese increasedserum
Literature
Shephard EA,Treacy EP, Phillips IRClinical utility gene card for: Trimethylaminuria - update 2014Eur J Hum Genet2392015
Zhao X,Zeisel SH, Zhang SRapid LC-MRM-MS assay for simultaneous quantification of choline, betaine, trimethylamine, trimethylamine N-oxide, and creatinine in human plasma and urineElectrophoresis002015