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HYPERMANGANESEMIA WITH DYSTONIA 2 (HMNDYT2)

HYPERMANGANESEMIA WITH DYSTONIA 2 (HMNDYT2)
MANGANESE TRANSPORTER DFECT; HMNDYT2
617013
OMIM = Online Mendelian Inheritance of Men
Zinc transporter ZIP14
8p21.3
rare
autosomal recessive
mutation in the SLC39A14 gene (zinc transporter)
Laboratory findings    Manganese inc (serum)
Symptoms    anemia
    cerebellar atrophy or hypoplasia
    cerebral atrophy
    contractures, joints
    developmental delay
    dystonia
    gait disturbance
    hyperreflexia
    hypertonia, spasticity
    hypotonia
    intellectual disability/intellectual developmental disorder
    learning disability
    microcephaly (<2 SD for age)
    MRI, brain, abnormalities [-]
    onset, infancy
    Parkinsonism
    scoliosis
    tremor or twitching