X-Linked Syndromic Intellectual Developmental Disorder with Pigmentary Mosaicism and Coarse Facies

**Semantic type:** Disease or Syndrome

**Definition:** An X-linked condition caused by mutation(s) in the TFE3 gene, encoding transcription factor E3. It is characterized by a triad of developmental delay, Blaschkoid pigmentary mosaicism, and characteristic coarse facial features.

**Synonyms:** - MRXSPF