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A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable mental retardation, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. KLEFS1 patients additionally manifest brachy(micro)cephaly, congenital heart defects, and urogenital defects.




9q- syndrome
Chromosome 9q34.3 deletion syndrome
Chromosome 9q subtelomeric deletion syndrome


Mental retardation


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