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ADNP syndrome

^ http://www.orpha.net/ORDO/Orphanet_404448


ADNP syndrome is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, global developmental delay, severely delayed speech, behavioral problems, pain insensitivity, sleep problems, seizures, structural brain anomalies, dysmorphic features, visual problems and autism.

Synonyms: ADNP-related syndromic intellectual disability-autism spectrum disorder, HVDAS, Helsmoortel-Van Der Aa Syndrome