Table 1.

Comparison of the clinical characteristics of diseases caused by pathogenic variants in GON4L, YY1, and SIN3A

Gene	GON4L				YY1	SIN3A
Patient ID or disease name	Patient 1	Patient 2	Patient 3	Sum	Gabriele-de Vries syndrome	Witteveen–Kolk syndrome
MIM phenotype #	N.A.				617557	613406
Inheritance mode	AR				AD	AD
Sex	Male	Female	Male
Intrauterine growth retardation	+	+	+	3/3	+	+
Short stature	+	+	+	3/3	+	+
Microcephaly	+	+	+	3/3	−	+
Facial asymmetrya	−	+	+	2/3	+	+
Broad/high forehead	+	+	+	3/3	+	+
Long face	+	+	+	3/3	−	+
Downslanted palpebral fissures	+	+	+	3/3	+	+
Strabismus	N.A.	+	+	2/2	+	+
Large ears	+	−	−	1/3	−	+
Thick lower lip	+	−	−	1/3	+	+
Pointed chin	+	−	+	2/3	+	+
Cardiac abnormalities	+	+	+	3/3	+	+
Cryptorchidism	−	N.A.	−	0/2	+	+
Extremity abnormalities	−	+	−	1/3	+	+
Developmental delay	+	+	+	3/3	+	+
Intellectual disability	+	+	+	3/3	+	+
Speech delay	+	+	+	3/3	+	+
Autistic features	+	−	−	1/3	+	+
Feeding problems	−	−	−	0/3	+	+
Brain structure abnormalities	+	+	+	3/3	+	+
Cortical abnormalities	+	+	+	3/3	+	+
White matter abnormalities	+	+	+	3/3	+	+
Hypoplastic/thin corpus callosum	+	+	+	3/3	+	+

Patient 1. The left eye shows microphthalmia and only the right eye has normal vision. Therefore, the presence of strabismus cannot be determined. Patient 2. She is female.

AD autosomal dominant inheritance, AR autosomal recessive inheritance. N.A. not applicable.

^aExcept for eyes.