Table 1. Clinical features of cases with 2q23.1 microdeletion syndrome.

	Case 1, this study (SMS185)	Case 2, this study (SMS361)	Wagenstaller et al6 (patient 29 195)	Jaillard et al3 (subject 1)	Jaillard et al3 (subject 2)	Vissers et al5 Koolen et al4 (patient 2)	De Vries et al2 (patient 2)
Phenotype
Sex	F	F	M	M	M	F	F
Ages of evaluation	4 and 13 years	3 and 9 years	1.5 years	2 and 10 years	3 and 10 years	2, 12, and 14 years	N/A
Mental retardation	+	+	+	+	+	+	+
Motor delay	+	+	+	+	+	+	+
Language impairment	Severe	50 words	+	<6 words	Severe	Severe	N/A
Behavioral problems	+ Hyperactivity	+ Social contact seeking behavior Hyperactivity Impulsiveness	+ Limited social interactions	+ Inappropriate laughter	+ Inappropriate laughter Autistic component Self-biting of hands/forearms Decreased sensitivity to pain Stereotypies	N/A	+ Picking of the eyes Hyperpnea Full hands into mouth
Short attention span	+	+	N/A	+	N/A	N/A	N/A
Sleeping difficulties	+	−	N/A	−	+	N/A	N/A
Postnatal growth  retardation	+	−	N/A	+	+	+	+
Short stature	+	+	N/A	−	−	+	+
Seizures	+	+	+	+	+	+	+
Ataxia	−	+	N/A	+	+	N/A	N/A
Feeding difficulties	+	+	N/A	+	+	N/A	N/A
Infantile hypotonia	+	+	N/A	+	+	N/A	N/A
Constipation	+	+	N/A	+	+	N/A	N/A
Craniofacial  manifestations	+	+		+	+	+	+
Microcephaly	+	15%	N/A	+	+	+	+
Brachycephaly	−	−	N/A	−	+	−	−
Midface hypoplasia	+	+	N/A	−	+	−	−
Hypertelorism	±Apparently widely spaced eyes	−	N/A	+	−	N/A	N/A
Flat nose	−	−	+	+	−	Small nose	N/A
Wide mouth	+	+	+	+	+	N/A	+
Tented upper lip	+	+	N/A	+	+	N/A	N/A
Open mouth	+	+	+	+	+	N/A	N/A
Small chin	−	+	N/A	+	+	−	−
Dental anomalies	+	+	N/A	−	+	+	N/A
Macroglossia	−	−	N/A	−	+	−	−
Eye findings		Optic nerve hypoplasia Mild myopia 30% right intermittent esotropia		Hypermetropia Astigmatism
Hand/foot abnormalties	+	+	+	+	+	+	+
Fifth finger clinodactyly	−	+	N/A	−	+	+	+
Brachydactyly	− Small hands and feet	− Small hands and feet	N/A	−	+	N/A	N/A
Other		Lumbar lordosis Toes bulbous at tips Bitemporal narrowing Relative obesity	Hypoactive Sandal gap	Micropenis Scoliosis Valgus feet Recurrent ear infections	Calm baby Hypogenitalism Pseudoarthrosis of the clavicle	Sandal gap Large ears

+, Feature present; −, feature absent; N/A, unknown.