The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype
Neurol 90:e1596-e1604, Dai, S.,et al, 2018
The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
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Parkinson's Disease
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