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X-linked alpha-thalassemia/mental retardation syndrome (ATR-X syndrome)
Genetics:
- associated with defects in ATRX
Clinical manifestations:
- severe psychomotor retardation
- facial dysmorphism
- urogenital abnormalities
- alpha-thalassemia
Laboratory:
- hemoglobin electrophoresis: hemoglobin H
- peripheral blood smear: erythrocyte inclusions
Related
alpha thalassemia
intellectual disability; mental retardation
General
X-linked mental retardation syndromic
Database Correlations
OMIM 301040
References
OMIM :accession 301040