Parkinsonism, early onset with mental retardation

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Parkinsonism, early onset with mental retardation

An extremely rare (one cohort documented in the world literature) condition (OMIM:311510) characterised by early-onset parkinsonism (postural changes, tremor, rigidity), defects of the basal ganglia, megalencephaly, mental retardation and other variably present signs such as frontal bossing, persistent frontal lobe reflexes, strabismus and seizures.

Molecular pathology
Defects of WSN cause Waisman syndrome.
References in periodicals archive ?
High-grade skarn mineralization, discovered by the Tibet BGMR on the southern contact of the Qu Long porphyry copper-gold deposit, is being mined on a small scale by a local company from Lhasa.
There are also a number of discrete gold anomalies detected in the Tibet BGMR regional geochemical survey.
Importantly, the Tibet BGMR has agreed to include the Jia Ma Skarn deposit within the scope of the joint venture.