Table 3 Summary of phenotypes in patients with validated pathogenic or possibly pathogenic CNVs

1815

6

DEL

111 807 663

9 889 630

Likely

MR, microcephaly, epicanthic folds, small ears, hypoplastic lobes, micrognathia,

brachycephaly, hypotonia

7531

9

DEL

139 496 489

333 935

Likely

Moderate global developmental delay, microcephaly, flat face, upslanting palpebral

fissures, hypertelorism, synophrysm, anteverted nares, hypoplasia of the

amygdalo-hippocampic complex

1056

13

DEL

107 190 506

2 206 948

Likely

Moderate MR, upslanting palpebral fissures, retrognathia

4821

16

DEL

3 862 993

78 891

Likely

Moderate MR, microcephaly, short stature, bilateral glaucoma, bilateral

colobomas of the optic nerves, neuro-sensorial deafness, large ASD, epicanthic

folds, low nasal septum, preauricular pits, low set ears, broad distal phalanges

of all fingers and toes, cryptorchidy, hypotonia

3921

17

DEL

41 062 469

657 364

Likely

Mild MR, sagittal craniosynostosis, malar hypoplasia, mild retrognathia, short

and upslanting palpebral fissures, low set ears, high arched palate, broad

proximal phalangeal joints of the hands, unilateral cryptorchidism

9609

22

DEL

19 062 809

728 798

Likely

Moderate MR, microcephaly, short stature, down-slanting palpebral fissures,

low-set ears, wide nasal base, retrognathia, metopic craniosynostosis, cleft

palate, partial agenesis of the corpus callosum, tetralogy of Fallot

8960

X

DUP

67 416 262

7 057 217

Likely

Moderate MR, brachycephaly, bilateral epicanthic folds, posteriorly rotated

ears with hypoplastic helix and hypotnic

9609

21

DEL

33 902 218

152 885

Possible

See above pathogenic mutation

8327

22

DUP

19 412 033

378 797

Possible

Mild MR, small stature, Pierre Robin sequence with cleft palate