Table 1.

Clinical characteristics of patients with CHD2 deletions ^a

Characteristics	Patient 1	Patient 2	Patient 3	Patient 4	Pinto et al .[10]	Capelli et al .[9]
Gender	F	F	F	F	M	F
Age (yr)	11	9	6	16	Not specified	6
Chr15 deletion [hg19] start–end (bp)	93,324,047 to 93,515,100	93,286,333 to 93,496,391	93,456,168 to 93,534,338	93,563,564 to 93,800,894	93,399,003 to 93,482,000	93,412,860 to 93,923,856
Size	191 kb	210 kb	78 kb	237 kb	83 kb	511 kb
RefSeq genes	CHD2, ASB9P1, LOC100507217, MIR3175	CHD2, ASB9P1, LOC100507217, MIR3175	CHD2	CHD2, RGMA	CHD2, LOC100507217, MIR3175	CHD2, RGMA, LOC100507217, MIR3175
Inheritance	De novo	De novo	De novo	De novo	De novo	De novo
Development	Motor delay		Communication disorder (receptive and expressive language difficulties)	Globally delayed	Globally delayed with more significant speech delay	Unknown	Globally delayed
	Speech delay						Speech impairment
	Cognition	Learning disability	Learning disability	ID	ID	ID	Unknown
		Short-term memory problems	Short-term memory problems
			Visual perceptual disability
	Behaviour	Short attention span	ADHD	Aggressive, impulsive, repetitive behaviours	ASD	ASD	Autistic behaviour
			Limited social skills		Aggressive behaviour
		Aggressive behavior					Short attention span
		Limited social skills
Seizure type (age of onset)	Jeavons syndrome	Absence seizures (3 yr)	No epilepsy	Complex partial and generalised seizures	No epilepsy	Unspecified seizures (2 yr)
	Absence seizures
	Eyelid myoclonia (6 yr)
Brain MRI	Normal	Not done	Normal	Normal	Altered angular gyrus	No severe abnormalities
Other	Mild hypotonia	Mild hypotonia	Mild hypotonia	Tourette’s syndrome			Gait ataxia
		Feeding difficulties	Feeding difficulties				Slight hypotonia
Dysmorphic features	Square-shaped face	Triangular face	Brachycephaly			Protruding ears	Facial gestalt suggestive of Angelman syndrome
			Prominent forehead	Broad forehead		Micrognathia
		High forehead		Short nose, upturned tip
			Full lips
		Prominent columella	Widely spaced central maxillary incisors				Wide mouth
							Widely spaced teeth
	Short philtrum
	Fifth-finger brachydactyly	Micrognathia					Prognathia
	Syndactyly of toes 2 and 3
Other features	Mild thoracic scoliosis	Reduced body fat mass	Strabismus	Mild thoracic scoliosis		Strabismus
	PIP joint fusion of thumbs
	Mild peripheral hearing loss (higher frequencies)
	Duplex kidney

^aADHD, Attention-deficit hyperactivity disorder; ASD, Autism spectrum disorder; Chr, Chromosome; ID, Intellectual disability; MRI, Magnetic resonance imaging; PIP, Proximal interphalangeal; RefSeq, National Center for Biotechnology Information (NCBI) Reference Sequence Database (http://www.ncbi.nlm.nih.gov/refseq/).