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 3
Phenotype entries for this disease 3
Associated with 1 gene PRPS1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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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
00436609 2781452 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - None ARTS;MRXS18 Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510, Moderate sensorineural hearing impairment HP:0008504, Optic atrophy HP:0000648, Short stature HP:0004322, Intellectual disability HP:0001249 PRPS1 PRPS1 1 1 Rocio Villafuerte-de la Cruz
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