Disease #00248 (MRXST (mental retardation, X-linked syndromic, Turner type (MRXST)), OMIM:300706)

Official abbreviation MRXST
Name mental retardation, X-linked syndromic, Turner type (MRXST)
OMIM ID 300706
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 2013-10-20 13:15:50 +02:00 (CEST)
Date last edited 2020-06-05 18:31:16 +02:00 (CEST)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00104571 - - - M no Czech Republic white - - - - MRXST severe intellectual disability, growth retardation, microcephaly, hypotonia HUWE1 HUWE1 1 1 Jana Paderova
00380425 167725 - - M no Germany - - - - - MRXST Cryptorchidism, Abnormal testis morphology, Abnormal palate morphology, Triangular mouth, High palate, Hypotonia, Bilateral cryptorchidism, Muscular hypotonia of the trunk, Joint contracture of the 5th finger, Joint contracture of the 4th finger, Joint contracture of the hand, Abnormality of mouth shape, Flexion contracture of finger, Abnormal oral morphology, Triangular-shaped open mouth HUWE1 HUWE1 1 1 Andreas Laner
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