Table 1. Comparison of clinical features of the patients carrying a microdeletion,^{10, 17} microduplication²⁶ or de novo nonsense mutation¹⁸ only affecting the SATB2 gene.

	Rosenfeld patient 1	Rosenfeld patient 2	Rosenfeld patient 3	Balasubramanian patient 5	Kaiser patient	Leoyklang patient	Patient in this report
Age at time of description	9y 8m	21y	6y	3y	11y	36y	3y
Sex	F	M	F	M	F	M	F
ID	Severe (IQ <50)	Severe	Severe (IQ 32)	Severe	Severe	Severe	Severe
Speech development	20 Words, 5 signs, 1 two-word phrase	Single words	No speech, but some signs	Absent	Nearly absent	1 Word	Absent
Behavior and sleep	Behavior problems	History of aggression	Sleep problems	NR	Challenging behavior	Jovial personality	Behavior and sleep problems
Brain MRI	Normal	NR	NR	NR	NR	No intracranial abnormality	Normal
Dysmorphic features	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Philtrum	Smooth	NR	NR	Short philtrum, high nasal bridge	NR	NR	Smooth
Cleft palate	NRa	Yes	Noa	Yes	Yes	Yes	Yes
Micrognathia	Yes	Yes	NR	Yes	Yes	Yes	Yes
Teeth abnormalities	Delayed dentition	Crowded teeth	Fused central incisors	NR	Oligodontia	Anterior-pointing incisors, oligodontia	Crowded, irregularly shaped
Additional findings	Gestational diabetes; good eye contact; ste-reotypic hand movements	High pain tolerance; not toilet trained		Gestational diabetes; 1 café-au-lait spot		Seizures, generalized osteoporosis	Astigmatism
Del/dup/mut	Del	Del	Del	Del	Dup	p.R239*	p.R239*

Abbreviations: del, microdeletion; dup, microduplication; ID, intellectual disability; m, months; mut, de novo point mutation (position as noted); NR, not reported; y, years.

See Figure 1 for the extents of the deletions.

All of these patients that clearly show the SATB2-associated phenotype have severe ID including delayed to non-existent speech development, cleft palate or *assumably high-arched palate (unfortunately, not reported sufficiently), micrognathia and tooth abnormalities.

The SATB2 missense mutation reported by Rauch et al.²⁸ have not been included into this table because detailed clinical information was not available.