X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.

doi:10.1136/jmg.31.3.245

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Article

X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.

Journal of medical genetics - 1 Mar 1994

Ogle R, DeSouza M, Cunningham C, Kerr B, Sillence D

Abstract excerpt

Two sibs with non-deletional alpha thalassaemia and mental retardation (ATR-X) have been ascertained showing variable neurological features. The proband had a complex neurological picture with recurrent apnoea, complex partial seizures, and prolonged periods of semiconsciousness between 12 and 17...

Topics

Abnormalities, Multiple
Consciousness Disorders
Face
Genetic Linkage
Hemoglobin H
Humans
Infant
Intellectual Disability
Male
Microcephaly
Penis
Phenotype
Seizures
Sex Chromosome Aberrations
X Chromosome
alpha-Thalassemia

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