Table 1.

Patients with DICER1 variants and syndromic features described in the literature

Phenotype	DICER1 mutation or deletions including DICER1
6-year-old male, developmental delay, hypotonia, macrocephaly, obesity, and behavioral problems [8]	1,4 MB deletion 14q32
Mother: bilateral multinodular goiter and papillary thyroid carcinoma [8]
15-year-old female, autism, coarse facial features, Sertoli-Leydig cell tumour, and Wilms’ tumour [8]	5 MB deletion 14q32
4-year-old male, developmental delay, congenital dysmorphic features, cystic nephroma, ciliary body medulloepithelioma, cerebral sarcoma, lung cyst, bifid uvula [9]	5,82 MB deletion 14q32
Male patient with Pierre-Robin sequence [15]	DICER1-mutation: p.(Tyr1511*)