TAOK1: de novo variant associated with craniofacial dysmorphism, short stature and delayed motor development

Widespread use of exome sequencing is leading to the knowledge of chromosomic anomalies related to neurodevelopmental disorders. The TAOK1 gen in chromosome 17 is involved in kinase synthesis, which play a role in many cellular processes and are known to take part in neural migration. Recently reported variants of TAOK1 are associated with psychomotor disorders, with or without intellectual disability and behavioral disorders. Other variants have been associated with dysmorphic features, microcephaly, hypotonia, feeding difficulties and growth retardation. We present one case with a de novo variant in TAOK1 associated with macrocephaly, facial dysmorphia, short stature and motor developmental delay.