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

Preferred Label : X-Linked Syndromic Intellectual Developmental Disorder with Pigmentary Mosaicism and Coarse Facies;

NCIt synonyms : MRXSPF;

NCIt 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.;

NCI Metathesaurus CUI : CL1783836;

Details

Origin ID

C206529;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- TFE3 Gene [NCIt concept]

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