Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
males
|
| gptkbp:alsoKnownAs |
Alpha-thalassemia mental retardation syndrome
|
| gptkbp:carrierFemales |
usually asymptomatic
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1995
|
| https://www.w3.org/2000/01/rdf-schema#label |
ATR-X syndrome
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:locatedOnChromosome |
Xq13.3
|
| gptkbp:mutationAssociatedWith |
ATRX gene
|
| gptkbp:namedAfter |
ATRX gene
|
| gptkbp:OMIM |
301040
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:alpha-thalassemia
intellectual disability facial dysmorphism genital abnormalities |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:X-linked_intellectual_disability
|
| gptkbp:bfsLayer |
7
|