Disease #02215 (ARTS;MRXS18 (Arts syndrome (ARTS, MRXS18)), OMIM:301835)

Official abbreviation ARTS;MRXS18
Name Arts syndrome (ARTS, MRXS18)
OMIM ID 301835
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene PRPS1
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00285735 - PubMed: de Brouwer 1993 - - - - - - - - - ARTS;MRXS18 - PRPS1 PRPS1 1 1 Global Variome, with Curator vacancy
00307646 patient PubMed: Puusepp 2020, Journal: Puusepp 2020 2-generation family, 1 affected, unaffected heterozygous carrier females M no Estonia - - - - - ARTS;MRXS18 - - PRPS1 1 1 Sander Pajusalu
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