Mutations in PTRH2 cause novel infantile‐onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

Objective To identify the cause of a so‐far unreported phenotype of infantile‐onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). Methods We characterized a consanguineous family of Yazidian‐Turkish descent with IMNEPD. The two affected children suffer from intellectual disabil...

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