Disease #00265 (PRTS (mental retardation, Partington syndrome (PRTS)), OMIM:309510)

Official abbreviation PRTS
Name mental retardation, Partington syndrome (PRTS)
OMIM ID 309510
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene ARX
Associated tissues -
Disease features -
Remarks -
Date created 2013-11-01 18:25:16 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00003179 - PubMed: Partington 1988 family, 11 affected males M no Australia - - - - - PRTS mental retardation, dystonic movement hands ARX ARX 1 11 Johan den Dunnen
00003180 - PubMed: Frints 2002 family, 2 affected males M no Belgium - - - - - PRTS mild to moderate MR, dystonic movements hands, dysarthria ARX ARX 1 2 Johan den Dunnen
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