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Browse result for O'Donnell-Luria-Rodan syndrome

※ introduction

    O'Donnell-Luria-Rodan syndrome (ODLURO) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, variably delayed intellectual development, and subtle dysmorphic features. Some patients may have autism, seizures, hypotonia, and/or feeding difficulties (summary by O'Donnell-Luria et al., 2019).

Reference
OMIM: O'Donnell-Luria-Rodan syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD09491Q8IZD255904
KMT2E
Inactive histone-lysine N-methyltransferase 2E
Homo sapiens