HERC2-related disorder (Autosomal recessive intellectual developmental disorder-38 (MRT38); Online Mendelian Inheritance in Man #615516) is an autosomal recessive neurodevelopmental condition characterized by global developmental delay, hypotonia, autistic behaviors, mild dysmorphic features, and an increased risk of s...
Ethan M. Scott, Olivia Wenger, Jennifer Hershberger et al.· Journal of Rare Diseases· 0 citations
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