Table 1.

Clinical manifestation and molecular data of our patient and previous cases with 19p13.3 microdeletion

	Archer et al.	Peddibhotla et al., Patient 8	Kuroda et al.	DECIPHER 253691	Present case
Age at diagnosis (years)	16	3	12	Unknow	10
Sex	Male	Female	Female	Male	Female
Coordinates of 19p13.3 microdeletion (hg19)	1,152,413–1,302,309 bp	785,691–1,444,289 bp	686,663–1,297,499 bp	1,272,198–2,138,731Bp	1,120,328–1,829,934 bp
Inheritance	de novo	N.R.	de novo	unknown	de novo
Neurocognitive
DD/ID Speech delay	+ -	+ +	+ -	+ -	+ +
Neurologic				N.R.
Seizures Hypotonia Motor delay Dyspraxia EEG anomalies	+ + - + +	- + + - +	+ + - - -		- + + - -
Neuropsychiatric				N.R.
Behavioral delay Attention deficit	- -	- -	- -		+ +
Hearing impairement	+	-	+	N.R.	-
Eye anomalies Exotropia Myopia Strabismus	- - -	- - +	- + +	N.R.	+ - -
Facial dysmorphisms	+	+	+	+	+
Congenital anomalies				N.R.
Cleft palate Renal agenesis Atrial septal defect Ventricular septal defect Umbilical hernia Hiatal hernia Inguinal Hernia Scoliosis Further forward anus	+ - - + + - - - -	- + + - + + - - -	- - - - + - + + -		- - - - - - - + +
Cerebral anomalies				N.R.
Ventricular anomalies	+	+	-		+

DD developmental delay, ID intellectual disability, bp base pairs, + feature present, − feature absent N.R. not reported