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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies

Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies

Summary

X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies (MRXSPF) is characterized by a phenotypic triad of severe developmental delay, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females (Villegas et al., 2019; Diaz et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: MRXSPF, RCCP2, RCCX1, TFEA, bHLHe33, TFE3
    Summary: transcription factor binding to IGHM enhancer 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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