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Up to: Congenital nervous system disorder · Mendelian neurodevelopmental disorder · Dysostosis · Congenital limb malformation · Multiple congenital anomalies/dysmorphic syndrome-intellectual disability · Syndromic intellectual disability

Rubinstein-Taybi syndrome

A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics.

3 trials tagged with this condition →