Table 2.

Pathogenic or likely pathogenic deletions encompassing chr16q24.2, which were found in 33 patients from Decipher and ClinGen databases

Sample's ID	Position (Hg19)	Size (Mb)	Pathogenicity	Phenotypes
nssv577572	chr16: 83,912,597–87,257,444	3.3	Pathogenic	Developmental delay and/or other significant developmental or morphological phenotypes
nssv13653329	chr16: 85,491,404–87,883,528	2.4	Pathogenic	Premature birth, respiratory distress, obsolete malformation of the heart and great vessels
nssv577567	chr16: 78,738,172–87,852,948	9.1	Pathogenic	Low-set ears
nssv577573	chr16: 87,340,135–89,335,487	2	Pathogenic	Developmental delay and/or other significant developmental or morphological phenotypes
nssv3395084	chr16: 86,983,712–89,402,222	2.4	Pathogenic	Autistic behavior, cleft palate, delayed fine motor development, delayed gross motor development, delayed speech and language development, failure to thrive, hydronephrosis, omphalocele, premature birth, seizures, ventricular septal defect
395,586	chr16: 66,542,499–88,242,499	22	Likely pathogenic	Aplasia/Hypoplasia of the hallux, broad forehead, broad hallux, delayed closure of the anterior fontanelle, epicanthus, flat occiput, frontal bossing, high anterior hairline, intellectual disability, microcephaly, muscular hypotonia, proportionate short stature, supernumerary nipple
413,188	chr16: 85,817,324–87,841,184	2	Likely pathogenic	Unknown
285,653	chr16: 86,011,033–87,846,920	1.8	Pathogenic	Unknown
287,253	chr16: 86,761,351–87,972,139	1.2	Likely pathogenic	Intellectual disability, lymphedema
326,419	chr16: 86,804,086–87,887,066	1.1	Likely pathogenic	Abnormality of movement, microcephaly, seizure
401,267	chr16: 86,877,615–87,868,052	0.99	Likely pathogenic	Abnormality of prenatal development or birth, broad nasal tip, hyperextensibility of the finger joints, hypertelorism, intellectual disability, umbilical hernia
338,652	chr16: 86,910,262–89,623,832	2.7	Unknown	Acute lymphoblastic leukemia
268,339	chr16: 87,044,630–87,779,387	0.73	Unknown	Barrel-shaped chest, delayed speech and language development, feeding difficulties in infancy, intellectual disability, obesity
369,852	chr16: 87,054,643–87,410,554	0.36	Uncertain	Bilateral tonic–clonic seizure with focal onset, low-set ears, macrocephaly, neonatal hypotonia
400,063	chr16: 87,152,792–87,845,741	0.69	Likely pathogenic	Abnormality of the uterus, borneal ulceration, diabetes, distichiasis, intellectual disability, misalignment of teeth, predominantly lower limb lymphedema, ureter duplex, vesicoureteral reflux
289,169	chr16: 87,183,661–89,520,803	2.3	Uncertain	Abnormal facial shape, abnormality of the kidney, congenital thrombocytopenia, developmental delay, increased susceptibility to fractures, mild intrauterine growth retardation, multiple skeletal anomalies, ptosis
267,497	chr16: 87,213,968–87,504,677	0.29	Unknown	Unknown
321,856	chr16: 87,219,866–89,561,087	2.3	Likely pathogenic	Depressed nasal bridge, failure to thrive in infancy, moderate global developmental delay, prominent metopic ridge, rocker bottom foot, thick eyebrow, wide nose
280,733	chr16: 87,257,185–87,845,882	0.59	Unknown	2–3 toe syndactyly, behavioral abnormality, developmental delay, synophrys
360,400	chr16: 87,257,185–87,845,882	0.59	Likely pathogenic	Unknown
260,745	chr16: 87,319,450–88,669,353	1.4	Unknown	Depressed nasal bridge, hypotonia, hypertelorism, infra-orbital crease, prominent forehead, thoracic hypoplasia
255,327	chr16: 87,340,135–89,335,428	2	Unknown	Coarse facial features, intellectual disability, macrocephaly, obesity, proportionate short stature, short foot, short palm, synophrys
332,844	chr16: 87,381,358–87,713,863	0.33	Uncertain	Developmental delay
300,919	chr16: 87,432,206–89,199,829	1.8	Uncertain	Congenital horizontal nystagmus, high myopia, intellectual disability, joint hypermobility
263,364	chr16: 87,433,214–87,485,161	0.052	Unknown	Unknown
355,808	chr16: 87,439,917–87,753,353	0.31	Uncertain	Intellectual disability, obesity
411,602	chr16: 87,485,102–87,814,273	0.33	Uncertain	Intellectual disability
343,346	chr16: 87,504,276–87,670,757	0.17	Uncertain	Intellectual disability
339,346	chr16: 87,539,375–87,637,824	0.098	Unknown	Unknown
274,894	chr16: 87,539,375-87,845,741	0.31	Unknown	Developmental delay
277,919	chr16: 87,609,569–87,848,970	0.24	Unknown	Behavioral abnormality
289,590	chr16: 87,709,267–87,802,845	0.094	Uncertain	Behavioral abnormality, intellectual disability
288,635	chr16: 87,709,267–87,957,415	0.25	Uncertain	Developmental delay, tetralogy of Fallot