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Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or witho...
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
MedGen
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Ritscher-Schinzel syndrome 4
Ritscher-Schinzel syndrome 4
MedGen
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Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarat...
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
MedGen
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Transcobalamin II deficiency
Transcobalamin II deficiency
MedGen
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Ataxia, deafness, and cardiomyopathy
Ataxia, deafness, and cardiomyopathy
MedGen
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