Rare Disease Library

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

1p35.2 microdeletion syndrome

Deletion 1p35.2 · Del(1)(p35.2)

20p13 microdeletion syndrome

20p subtelomeric deletion syndrome · Del(20)(p13)

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

Distal deletion 10p syndrome

Distal monosomy 10p · Monosomy 10pter

Distal deletion 10q syndrome

Distal monosomy 10q · Monosomy 10qter

Distal deletion 12q syndrome

Distal monosomy 12q · Monosomy 12qter

Distal deletion 13q syndrome

Distal monosomy 13q · 13q32 deletion

Distal deletion 14q syndrome

Distal monosomy 14q · Telomeric deletion 14q

Distal deletion 15q syndrome

Distal monosomy 15q · 15q26 deletion syndrome

Distal deletion 17q syndrome

Distal monosomy 17q · Monosomy 17qter

Distal deletion 19p syndrome

Telomeric deletion 19p · Distal monosomy 19p13.3

Distal deletion 1q syndrome

Distal monosomy 1q · Monosomy 1qter

Distal deletion 4q syndrome

Distal monosomy 4q · Monosomy 4qter

Distal deletion 6p syndrome

6p subtelomeric deletion syndrome · 6p25 microdeletion syndrome

Distal deletion 7p syndrome

Distal monosomy 7p · Monosomy 7pter

Distal deletion 9p syndrome

Distal monosomy 9p · Monosomy 9pter

Distal duplication 1p36 syndrome

Distal trisomy 1p36 · Telomeric duplication 1p36

Distal monosomy 7q36 syndrome

Distal deletion 7q36 · Monosomy 7qter

Jacobsen syndrome

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

Kleefstra syndrome due to 9q34 microdeletion

9q subtelomeric deletion syndrome · 9qSTDS

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster

Lethal 1p36.33 deletion syndrome

Miller-Dieker syndrome

Lissencephaly due to 17p13.3 deletion · Monosomy 17p13.3

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

OBSOLETE: Distal monosomy 20q

OBSOLETE: Monosomy 20qter · OBSOLETE: Distal deletion 20q

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p