A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has material basis in homozygous ultra-rare REV3L variant (T2753R).
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Neu-Laxova syndrome
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inclusion body myopathy with Paget disease of bone and frontotemporal dementia
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syndromic intellectual disability
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fibrogenesis imperfecta ossium
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Fanconi renotubular syndrome
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