Renpenning Syndrome

**Semantic type:** Mental or Behavioral Dysfunction

**Definition:** An X-linked recessive disorder caused by mutation(s) in the PQBP1 gene, encoding polyglutamine-binding protein 1. It is characterized by moderate to severe intellectual disability, developmental delay and characteristic dysmorphic features, which may include short stature, microcephaly, and a narrow face.

**Synonyms:** - Intellectual Developmental Disorder, X-Linked, Renpenning Type - Mental Retardation, X-Linked, Renpenning Type