Intellectual Developmental Disorder with Hypotonia, Impaired Speech, and Dysmorphic Facies

**Semantic type:** Disease or Syndrome

**Definition:** 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).

**Synonyms:** - IDDHISD