label: Intellectual Developmental Disorder with Hypotonia, Impaired Speech, and Dysmorphic Facies
label_lc: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
description: An autosomal dominant condition caused by mutation(s) in the TNPO2 gene, encoding transportin-2. It is characterized by intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD).