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

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