Rare Disease Library

Charcot-Marie-Tooth disease type 1A

CMT1A · Microduplication 17p12

ORPHA:101081

10q22.3q23.3 microduplication syndrome

Dup(10)(q22.3q23.3) · Trisomy 10q22.3q23.3

ORPHA:276422

11p15.4 microduplication syndrome

Dup(11)p(15.4) · Trisomy 11p15.4

ORPHA:300305

14q11.2 microduplication syndrome

Dup(14)(q11.2) · Trisomy 14q11.2

ORPHA:261229

15q11q13 microduplication syndrome

15q11q13 duplication syndrome · Dup(15)(q11q13)

ORPHA:238446

16p11.2p12.2 microduplication syndrome

Dup(16)(p11.2p12.2) · Trisomy 16p11.2p12.2

ORPHA:261204

16p13.11 microduplication syndrome

Dup(16)(p13.11) · Trisomy 16p13.11

ORPHA:261243

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

ORPHA:96078

17p11.2 microduplication syndrome

Potocki-Lupski syndrome · Trisomy 17p11.2

ORPHA:1713

17p13.3 microduplication syndrome

17p13.3 duplication syndrome · Dup(17)(p13.3)

ORPHA:217385

17q11.2 microduplication syndrome

Dup(17)(q11.2) · Grisart-Destrée syndrome

ORPHA:139474

17q12 microduplication syndrome

Dup(17)(q12) · Trisomy 17q12

ORPHA:261272

17q21.31 microduplication syndrome

Dup(17)(q21.31) · Trisomy 17q21.31

ORPHA:217340

19p13.3 microduplication syndrome

Dup(19)(p13.3)

ORPHA:447980

1q21.1 microduplication syndrome

Dup(1)(q21.1) · Trisomy 1q21.1

ORPHA:250994

20q11.2 microduplication syndrome

Dup(20)(q11.2)

ORPHA:363659

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

ORPHA:1727

2p25.3 microduplication syndrome

Trisomy 2p25.3 syndrome · Dup(2)(p25.3)

ORPHA:699850

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

ORPHA:313947

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

ORPHA:96095

3q29 microduplication syndrome

Trisomy 3q29

ORPHA:251038

4p16.3 microduplication syndrome

Distal duplication 4p · Distal trisomy 4p

ORPHA:96072

5p13 microduplication syndrome

Dup(5)(p13) · Trisomy 5p13

ORPHA:329802

5q35 microduplication syndrome

Dup(5)(q35) · Trisomy 5q35

ORPHA:228415

7p22.1 microduplication syndrome

Dup(7)(p22.1) · Trisomy 7p22.1

ORPHA:314034

7q11.23 microduplication syndrome

Dup(7)(q11.23) · Trisomy 7q11.23

ORPHA:96121

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

ORPHA:228399

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

7q36.3 microduplication syndrome · Dup(7)(q36.3)

ORPHA:459074

Distal 22q11.2 microduplication syndrome

Distal dup(22)(q11.2) · Distal trisomy 22q11.2

ORPHA:261337

Distal 7q11.23 microduplication syndrome

Distal dup(7)(q11.23) · Distal trisomy 7q11.23

ORPHA:261102

Distal limb deficiencies-micrognathia syndrome

10q24 microduplication syndrome · Buttiens-Fryns syndrome

ORPHA:1307

Distal Xq28 microduplication syndrome

Int22h1/Int22h2 mediated-Xq28 microduplication syndrome · Distal dup(X)q(28)

ORPHA:293939

Microduplication Xp11.22p11.23 syndrome

Dup(X)(p11.22p11.23) · Trisomy Xp11.22p11.23

ORPHA:217377

PMP22-RAI1 contiguous gene duplication syndrome

Yuan-Harel-Lupski syndrome · 17p11.2p12 microduplication syndrome

ORPHA:477817

Proximal 16p11.2 microduplication syndrome

Proximal dup(16)(p11.2) · Proximal trisomy 16p11.2

ORPHA:370079

Trisomy 12p syndrome

Duplication 12p

ORPHA:1699

Trisomy 18p syndrome

Duplication 18p · Duplication of the short arm of chromosome 18

ORPHA:1715

Trisomy 1q syndrome

Duplication 1q

ORPHA:261344

Trisomy 4p syndrome

Trisomy of the short arm of chromosome 4 · Duplication 4p

ORPHA:1738

Trisomy 5p syndrome

Duplication 5p · Duplication of the short arm of chromosome 5

ORPHA:1742

Trisomy 8p syndrome

Duplication 8p

ORPHA:264450

Trisomy 8q syndrome

Duplication 8q

ORPHA:1752

Trisomy 9p syndrome

Duplication 9p · Duplication of the short arm of chromosome 9

ORPHA:236

Xq25 microduplication syndrome

Dup(X)(q25) · Xq25 microtriplication

ORPHA:521258

Xq27.3q28 duplication syndrome

Dup(X)(q27.3q28) · Trisomy Xq27.3-q28

ORPHA:261483