Table 1.

Comparison of the clinical features observed in our patient with those previously documented in individuals with a PUF60 gene variant.

Clinical phenotypes	Present case	Previous reported cases with PUF60 variants (n = 56)
Auditory	-	16/40 (40%)
Cardiac	+	31/52 (60%)
Coloboma	-	19/49 (38%)
Developmental delay	+	49/54 (90%)
Genital	+	5/25 (20%)
Stool difficulties	+	2/10 (20%)
Hand analomies	-	26/49 (53%)
Joint laxity/dislocation	-	17/43 (40%)
Laryngeal	+	2/2 (100%)
Ocular	-	29/48 (60%)
Oral/Palatal deformities	-	16/32 (50%)
Renal	+	11/47 (23%)
Vertebral	+	30/50 (60%)