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Summary

Disease	HYPERMANGANESEMIA WITH DYSTONIA 2 (HMNDYT2)
Synonym	MANGANESE TRANSPORTER DFECT HMNDYT2
OMIM	617013 OMIM = Online Medalian Inheritance of Men
Gene locus	8p21.3
Summary	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

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
MRI, brain, abnormalities -
Manganese					increased	serum

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
Shephard EA,	Treacy EP, Phillips IR	Clinical utility gene card for: Trimethylaminuria - update 2014	Eur J Hum Genet		23	9		2015
Zhao X,	Zeisel SH, Zhang S	Rapid LC-MRM-MS assay for simultaneous quantification of choline, betaine, trimethylamine, trimethylamine N-oxide, and creatinine in human plasma and urine	Electrophoresis		0	0		2015