Table 3.

A comparison between two patients with a heterozygous deletion of ATRNL1

	Present case P24	Stark et al.
Cardiac problems at birth	-	Small muscular ventricular septal defect at birth but closed spontaneously
Poor suck & hypotonia first weeks of life	-	+
Prominent forehead	Small	+
Epicanthal folds	-	+
Arched eyebrows	+	+
Long eyelashes	+
Eye problems	-	+
Small mouth	-	+
Small and squared ears	-	+
Upslanting palpebral fissures	+
Flat pillar of the nose, wide nose	+	-
Fingers/toes abnormalities	Short second toe	2/3 toe syndactyly
Skeletal abnormalities	Syringomyelia	Radioulnar synostosis
Delay	Severe	Moderate, no developmental regression
Walked at the age of	30 months	24 months
Ataxic gait	+	+
Others		eczema