label: X-Linked Syndromic Intellectual Developmental Disorder with Pigmentary Mosaicism and Coarse Facies
label_lc: x-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies
description: 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.