Rare Disease Library

Trisomy 18 syndrome

Chromosome 18 duplication · Edwards syndrome

14q32 duplication syndrome

Dup(14)q(32) · Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication

15q11q13 microduplication syndrome

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

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

17p13.3 microduplication syndrome

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

1p36.33 duplication syndrome

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

Autosomal trisomy syndrome

Autosomal duplication

Caudal duplication

Dipygus · Split notochord syndrome

Distal duplication 10q syndrome

Distal trisomy 10q · Telomeric duplication 10q

Distal duplication 11q syndrome

Distal trisomy 11q · Telomeric duplication 11q

Distal duplication 13q syndrome

Distal trisomy 13q · Telomeric duplication 13q

Distal duplication 14q syndrome

Telomeric duplication 14q · Trisomy 14qter

Distal duplication 15q syndrome

Distal trisomy 15q · Telomeric duplication 15q

Distal duplication 16q syndrome

Distal trisomy 16q · Telomeric duplication 16q

Distal duplication 17q syndrome

Distal trisomy 17q · Telomeric duplication 17q

Distal duplication 18q syndrome

Distal trisomy 18q · Telomeric duplication 18q

Distal duplication 19q syndrome

Telomeric duplication 19q · Trisomy 19qter

Distal duplication 1p36 syndrome

Distal trisomy 1p36 · Telomeric duplication 1p36

Distal duplication 20q syndrome

Distal trisomy 20q · Telomeric duplication 20q

Distal duplication 22q syndrome

Distal trisomy 22q · Telomeric duplication 22q

Distal duplication 2p syndrome

Distal trisomy 2p · Telomeric duplication 2p

Distal duplication 2q syndrome

Distal trisomy 2q · Telomeric duplication 2q

Distal duplication 3p syndrome

Distal trisomy 3p · Telomeric duplication 3p

Distal duplication 4q syndrome

Distal trisomy 4q · Telomeric duplication 4q

Distal duplication 5q syndrome

Distal trisomy 5q · Telomeric duplication 5q

Distal duplication 6p syndrome

Distal trisomy 6p · Telomeric duplication 6p

Distal duplication 6q syndrome

Distal trisomy 6q · Telomeric duplication 6q

Distal duplication 7p syndrome

Distal trisomy 7p · Telomeric duplication 7p

Distal duplication 8q syndrome

Distal trisomy 8q · Telomeric duplication 8q

Distal duplication 9q syndrome

Distal trisomy 9q · Telomeric duplication 9q

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

Inverted duplicated chromosome 15 syndrome

Inv dup (15) syndrome · idic (15) syndrome

Jacobsen syndrome

Chromosome 11q deletion syndrome · Del(11)(q23.3)

Non-distal duplication 10q syndrome

Non-distal trisomy 10q · Non-telomeric trisomy 10q

Non-distal duplication 13q syndrome

Non-distal trisomy 13q · Non-telomeric trisomy 13q

Partial deletion of chromosome 18 syndrome

Partial monosomy of chromosome 18

Partial deletion of the long arm of chromosome 1 syndrome

Partial deletion of chromosome 1q · Partial monosomy of chromosome 1q

Partial deletion of the long arm of chromosome 10 syndrome

Partial deletion of chromosome 10q · Partial monosomy of the long arm of chromosome 10

Partial deletion of the long arm of chromosome 11 syndrome

Partial deletion of chromosome 11q · Partial monosomy of chromosome 11q

Partial deletion of the long arm of chromosome 12 syndrome

Partial deletion of chromosome 12q · Partial monosomy of chromosome 12q

Partial deletion of the long arm of chromosome 13 syndrome

Partial deletion of chromosome 13q · Partial monosomy of chromosome 13q

Partial deletion of the long arm of chromosome 14 syndrome

Partial deletion of chromosome 14q · Partial monosomy of chromosome 14q

Partial deletion of the long arm of chromosome 15 syndrome

Partial deletion of chromosome 15q · Partial monosomy of chromosome 15q

Partial deletion of the long arm of chromosome 16 syndrome

Partial deletion of chromosome 16q · Partial monosomy of chromosome 16q

Partial deletion of the long arm of chromosome 17 syndrome

Partial deletion of chromosome 17q · Partial monosomy of chromosome 17q

Partial deletion of the long arm of chromosome 18 syndrome

Partial deletion of chromosome 18q · Partial monosomy of chromosome 18q