Category:Alpha-thalassemia_mental_retardation_syndromeATR-X-SyndromAlpha-thalassemia_mental_retardation_syndrome%D8%B3%D9%86%D8%AF%D8%B1%D9%85_%DA%A9%D9%85%E2%80%8C%D8%AA%D9%88%D8%A7%D9%86%DB%8C_%D8%B0%D9%87%D9%86%DB%8C_%D8%A2%D9%84%D9%81%D8%A7-%D8%AA%D8%A7%D9%84%D8%A7%D8%B3%D9%85%DB%8CThalass%C3%A9mie_alpha_li%C3%A9e_%C3%A0_l%27X_avec_retard_mentalZesp%C3%B3%C5%82_ATR-X%D0%A1%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC_%D0%B0%D0%BB%D1%8C%D1%84%D0%B0-%D1%82%D0%B0%D0%BB%D0%B0%D1%81%D1%81%D0%B5%D0%BC%D0%B8%D0%B8_%D0%B8_%D1%83%D0%BC%D1%81%D1%82%D0%B2%D0%B5%D0%BD%D0%BD%D0%BE%D0%B9_%D0%BE%D1%82%D1%81%D1%82%D0%B0%D0%BB%D0%BE%D1%81%D1%82%D0%B8ATR-X_syndromeQ2613277
about
sameAs
P2293
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.[X-linked alpha-thalassemia/mental retardation syndrome].Alpha thalassemia/mental retardation syndrome X-linked gene product ATRX is required for proper replication restart and cellular resistance to replication stress.X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq.A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).[Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome].Alpha Thalassemia/Mental Retardation Syndrome X-Linked, the Alternative Lengthening of Telomere Phenotype, and Gliomagenesis: Current Understandings and Future Potential.Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?[Three Japanese children with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)].A Japanese patient with X-linked alpha-thalassemia/mental retardation syndrome: an additional case report.First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability.Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.Alpha-thalassemia/mental retardation syndrome in a 45,X male.Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).A case of X-linked alpha-thalassemia/mental retardation syndrome: analysis of hemoglobin by an automated glycated hemoglobin analyzer.Alpha-thalassemia/mental retardation syndrome often confused with other disorders.Self-induced vomiting in X-linked alpha-thalassemia/mental retardation syndrome.Phenotype–genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3[Alpha-thalassemia/mental retardation syndrome related to the X chromosome][Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues]
P921
Q33625532-62D724BE-5F63-4908-9D60-36CF946DFFB1Q34608440-19E4572D-5D8C-4ABF-B428-DFD94BE8B7D9Q36647310-C4741A36-B986-4FC7-8EA2-57F8B4F6C3A6Q36748334-FD65077C-608A-4F5D-AFA8-4AB0286F72E8Q39199942-048EF8B4-E57F-465B-AA88-FFF2FC12ECE8Q40511256-B1361138-D518-41A8-8D07-4D3423EE11B0Q40530478-9358B033-2FF8-47E3-B4B6-5D882EEA1718Q45147596-EDB1FA6D-77E4-4218-AC67-CEEE4CD8DD6FQ47552952-5FB3379C-2516-4AC0-AFD7-5568A19F171FQ50521150-B21F6852-A608-4ACD-AF40-43952AAF7EC2Q50871604-5F8D0533-557D-47F6-843E-4A55D0382584Q50980031-5EB0E24F-7C08-42CE-87AB-62EBE2C9B89FQ51850667-017EF797-C2FD-4C53-A987-9F01E3301812Q51926885-8A002A7F-B7CD-4EF2-938F-86D4A5E9475BQ51934264-94D45BBB-40DE-45DE-BB91-41D490CCC99AQ51956650-DBE39DEC-DC62-4B5B-BA07-0CC9494D6E81Q51973837-614B0542-FF2F-4F5A-BF25-88685E79C7F5Q51998152-A5CD5A68-1F41-453E-8F03-554CD0E7165AQ52041493-18634F1B-9DF3-49C8-84F6-1DF2AC6179CAQ52201055-3C52D317-CC66-48DF-ABD5-E9AEA0B6F23CQ57761790-5DE6E7C9-8AE1-4573-8441-3B82120DF23CQ71992710-322474F0-2BB7-4A77-BEC3-89D8108B0F65Q83933916-0DE83312-D70C-4A7F-83CB-836A1EA57C3F
P921
description
Krankheit
@de
alpha thalassemia that has material basis in mutation in the ATRX gene on Xq21
@en
مرض يصيب الإنسان
@ar
name
ATR-X syndrome
@sv
ATR-X
@rup
ATR-X-Syndrom
@de
Alpha-thalassemia mental retardation syndrome
@en
Zespół ATR-X
@pl
thalassémie alpha liée à l'X avec retard mental
@fr
Синдром альфа-таласемии и умственной отсталости
@ru
سندرم کمتوانی ذهنی آلفا-تالاسمی
@fa
type
label
ATR-X syndrome
@sv
ATR-X
@rup
ATR-X-Syndrom
@de
Alpha-thalassemia mental retardation syndrome
@en
Zespół ATR-X
@pl
thalassémie alpha liée à l'X avec retard mental
@fr
Синдром альфа-таласемии и умственной отсталости
@ru
سندرم کمتوانی ذهنی آلفا-تالاسمی
@fa
altLabel
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
@en
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX
@en
ATR, nondeletion type
@en
ATR-X syndrome
@en
ATRX syndrome
@en
ATRX
@en
Alpha Thalassemia X-Linked Mental Retardation Syndrome
@en
Alpha Thalassemia/Mental Retardation Syndrome X-Linked
@en
Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked
@en
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type
@en
prefLabel
ATR-X syndrome
@sv
ATR-X
@rup
ATR-X-Syndrom
@de
Alpha-thalassemia mental retardation syndrome
@en
Zespół ATR-X
@pl
thalassémie alpha liée à l'X avec retard mental
@fr
Синдром альфа-таласемии и умственной отсталости
@ru
سندرم کمتوانی ذهنی آلفا-تالاسمی
@fa
P279
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P18
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P2581
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Alpha-thalassemia mental retardation syndrome
P4229
P486
P492
P5270
MONDO:0010519
P6366
2778720452
P646
P699
DOID:0110030
P7464
alpha-thalassemia-x-linked-intellectual-disability-syndrome