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Summary
PARKINSONISM-DYSTONIA, INFANTILE, 2 PKDYS2
618049
OMIM = Online Medalian Inheritance of Men
352649
10q25.3
very rare
autosomal recessive
mutation in the SLC18A2 gene
symptoms
ataxia
cognitive impairment
depression
developmental delay
dysarthria
dystonia
gait disturbance
hyperreflexia
hypotonia
oculogyric crisis
onset, childhood
onset, infancy
Parkinsonism
profuse nasal and oropharyngeal secretions
sweating
tremor or twitching
laboratory finding
Homovanillic acid mmol/mol creatinineurine
5-Hydroxyindolacetic acid (5-HIAA) mmol/mol creatinineurine
Dopamine mmol/mol creatinineurine
Literature