|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.
|
28371197 |
2017 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Expanding phenotype of XNP mutations: mild to moderate mental retardation.
|
12116232 |
2002 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.
|
11015451 |
2000 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the chromatin-associated protein ATRX.
|
18409179 |
2008 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.
|
10570185 |
1999 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.
|
21653732 |
2011 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
|
24805811 |
2015 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
|
1415255 |
1992 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).
|
12032728 |
2002 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline and gonosomal mosaicism in the ATR-X syndrome.
|
10602370 |
1999 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
|
28371217 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.
|
24289169 |
2014 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Alpha thalassaemia-mental retardation, X linked.
|
16722615 |
2006 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.
|
11050622 |
2000 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Alpha thalassaemia-mental retardation, X linked.
|
16722615 |
2006 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
|
1415255 |
1992 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.
|
16813605 |
2006 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.
|
11015451 |
2000 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).
|
12858175 |
2003 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.
|
10570185 |
1999 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Carpenter-Waziri syndrome results from a mutation in XNP.
|
10398237 |
1999 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).
|
12032728 |
2002 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.
|
24289169 |
2014 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline and gonosomal mosaicism in the ATR-X syndrome.
|
10602370 |
1999 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.
|
16813605 |
2006 |