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  • A rare genetic syndromic intellectual disability disorder with characteristics of global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus) and corpus callosum dysplasia may be associated. The disease is caused by homozygous mutation in the THOC6 gene on chromosome 16p13.
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