Disease #06874 (MRXST (Mental retardation, X-linked syndromic, Turner type), OMIM:309590)

Official abbreviation MRXST
Name Mental retardation, X-linked syndromic, Turner type
OMIM ID 309590
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene HUWE1
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited N/A


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00433674 - - - - - - - - - - - MRXST developmental delay, facial abnormalities, short stature - HUWE1 1 1 Marketa Wayhelova
00462241 - - - F - Germany - - - - - MRXST EEG abnormality, Short stature, Neurodevelopmental delay, Autistic features HUWE1 HUWE1 1 1 Andreas Laner
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