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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
See this aricle in Pubmed

Article Abstract
Genetic testing confirmed a pathogenic variant of poLR3B. POLR3-related-leukodystrophies should be considered in patients who present with hypotonia, ataxia, and hypodontia. There are many different subtypes of POLR-related leukodystrophies each with distinguishing phenotypic and radiographic features. Although MRI can be helpful in initial evaluation, genetic testing is needed for confirmatory diagnosis and to guide prognosis.
 
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ataxia
cerebellar atrophy,primary
children
delayed dentition
developmental retardation
genetic neurologic disorders
genetic testing
hypodontia
hypomyelination
hypotonia
leukodystrophy
MRI,abnormal
myopia
POLR3B
teeth,abnormal
teeth,number of in infants
tremor
white matter disease

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