01Chromosome 1p31 duplication syndrome
02Chromosome 1p32-p31 deletion syndrome
03Chromosome 1p36 deletion syndrome
04Chromosome 1q41-q42 deletion syndrome
05Chromosome 2p12-p11.2 deletion syndrome
06Chromosome 2p16.1-p15 deletion syndrome
07Split-hand/foot malformation 5
08Chromosome 2q31.1 duplication syndrome
09Chromosome 2q31.1 deletion syndrome
10Chromosome 2q35 duplication syndrome
11Holoprosencephaly 6
12Chromosome 3pter-p25 deletion syndrome
13Chromosome 3q13.31 deletion syndrome
14Dandy-Walker syndrome
15Chromosome 3q29 deletion syndrome
16Chromosome 3q29 duplication syndrome
17Wolf-Hirschhorn syndrome
18Chromosome 4q21 deletion syndrome
19Chromosome 4q32.1-q32.2 triplication syndrome
20Cri-du-Chat syndrome
21Chromosome 5q12 deletion syndrome
22Chromosome 5q14.3 deletion syndrome
23Chromosome 6pter-p24 deletion syndrome
24Chromosome 6q11-q14 deletion syndrome
25Chromosome 6q24-q25 deletion syndrome
26CHDM
27Chromosome 7q deletion syndrome
28Chromosome 7q11.23 deletion syndrome
29Chromosome 7q11.23 duplication syndrome
30Chromosome 8p23.1 deletion syndrome
31Chromosome 8p23.1 duplication syndrome
32Chromosome 8q12.1-q21.2 deletion syndrome
33Chromosome 8q22.1 duplication syndrome
34Chromosome 8q22.1 deletion syndrome
35Langer-Giedion syndrome
36Chromosome 9p deletion syndrome
37DiGeorge syndrome 2
38Chromosome 10q22.3-q23.2 deletion syndrome
39Chromosome 10q26 deletion syndrome
40Potocki-Shaffer syndrome
41WAGR syndrome
42WAGRO syndrome
43Jacobsen syndrome
44Chromosome 12q14 microdeletion syndrome
45Chromosome 13q14 deletion syndrome
46Chromosome 14q11-q22 deletion syndrome
47Frias syndrome
48Chromosome 15q11-q13 duplication syndrome
49Angelman syndrome
50Prader-Willi syndrome
51Chromosome 15q14 deletion syndrome
52Chromosome 15q25 deletion syndrome
53Congenital Diaphragmatic Hernia (CDH)
54Chromosome 15q26-qter deletion syndrome
55Levy-Shanske syndrome
56Chromosome 16p deletion syndrome
57Chromosome 16p11.2-p12.2 microduplication syndrome
58Chromosome 16p12.2-p11.2 deletion syndrome
59Chromosome 16p13.3 deletion syndrome
60Chromosome 16q22 deletion syndrome
61Potocki-Lupski syndrome
62Smith-Magenis syndrome
63Yuan-Harel-Lupski syndrome
64Chromosome 17p13.3 duplication syndrome
65Chromosome 17p13.3 deletion syndrome
66Chromosome 17q12 deletion syndrome
67Chromosome 17q12 duplication syndrome
68Chromosome 17q21.31 duplication syndrome
69Chromosome 17q23.1-q23.2 deletion syndrome
70Chromosome 18p deletion syndrome
71Chromosome 18q deletion syndrome
72Chromosome 19q13.11 deletion syndrome
73Holoprosencephaly 1
74Cat-Eye syndrome
75Chromosome 22q11.2 deletion syndrome
76Chromosome 22q11.2 duplication syndrome
77DiGeorge syndrome
78Chromosome Xp11.23-p11.22 duplication syndrome
79Chromosome Xp11.3 deletion syndrome
80Chromosome Xp21 deletion syndrome
81Chromosome Xq21 deletion syndrome
82Chromosome Xq22.3 telomeric deletion syndrome
83Chromosome Xq27.3-q28 duplication syndrome
84Chromosome Xq28 deletion syndrome