Table 2.

Clinical data of 12q21 deleted patients described in the literature.

	Klein et al., 2005 [2]	Rauen et al., 2002 [7]	Schluth et al., 2008 [8]	McKenna et al., 2019 [4]	Niclass et al., 2020_1 [5]	Niclass et al., 2020_2 [5]	Oliveira et al., 2015 [6]	Matsumoto et al., 2014 [3]	Niclass et al., 2020_3 [5]	Cano et al., 2016 [1]	Akilapa et al., 2015 [9]	Lenk et al., 2018 [10]
Growth retardation			+		+					+
DD/ID	+	+	+	+	+		+	+	+	+	+	+
Prominent forehead	+	+	+	+	+	+	+	+
Hypertelorism	+		+				+		+
Low set ears	+	+	+	+	+		+	+	+
Short nose	+	+		+	+		+	+	+
Other dysmorphisms			Anteverted nostrils, long philtrum, thin lips, microgna-thia	Anteverted nares	Long high palpebral fissures, hypoplastic nostrils	Flat face, hypoplastic nostrils, dysplastic left ear		Long philtrum, high arched palate	Upslanted palpebral fissures, anteverted nares, wide philtrum, thin upper lip, prominent chin	Microphthalmia, microdontia	Wide nasal base, low hanging columella, thin upper lip, wide mouth, down-slanting palpebral fissures
2–3 toe syndactyly + single palmar crease	+	+	+	+			+			+
Cardiac anomalies	+	+	+	+
Ectodermal abnormalities	+	+		+			+	+	+
Ocular abnormalities (strabismus; hyperopia)	+		+		+		+	+
Genitourinary anomalies	+	+			+	+
Brain abnormalities	+			+	+	+	+	+
Hypotonia		+			+		+
Other Features	Hearing loss				Ataxia, dysarthria				ASD	Myopia, microcornea	Tall stature

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