Table 3.

Clinical data of 12q21 deleted patients from the DECIPHER database.

Patients	261,816	1582	1875	331,592	291,358	306,170	323,949	273,686
Growth retardation					+
DD/ID	+	+	+	+		+	+
Prominent forehead	+	+			+
Hypertelorism
Low set ears	+	+			+
Short nose
Other dysmorphisms		Upslanted palpebral fissure, wide mouth	Macrocephaly, brachycephaly		Long philtrum, relative macrocephaly, short neck, upslanted palpebral fissures			Highly arched eyebrow, upslanted palpebral fissures
2–3 toe syndactyly + single palmar crease					+
Cardiac anomalies	+
Ectodermal abnormalities		+	+
Ocular abnormalities (strabismus; hyperopia)			+
Genitourinary anomalies
Brain abnormalities
Hypotonia							+
Other features		Joint laxity				Aggressive behavior, Peters anomaly		Corneal dystrophy, hand polydactyly, hypospadias

“+”: present; empty cells: absent or data not available; DD: developmental delay; ID: intellectual disability.