Rare Disease Library

Distal deletion 19p syndrome

Telomeric deletion 19p · Distal monosomy 19p13.3

Distal deletion 1q syndrome

Distal monosomy 1q · Monosomy 1qter

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

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 9q syndrome

Distal trisomy 9q · Telomeric duplication 9q

Distal monosomy 7q36 syndrome

Distal deletion 7q36 · Monosomy 7qter

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

Jacobsen syndrome

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

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

Lethal 1p36.33 deletion syndrome

Mesomelia-synostoses syndrome

8q13 microdeletion syndrome · Del(8)q(13)

Miller-Dieker syndrome

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

Mitochondrial DNA depletion syndrome

mtDNA depletion syndrome

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Multiple mitochondrial DNA deletion syndrome

Multiple mtDNA deletion syndrome

Non-distal deletion 10q syndrome

Non-distal monosomy 10q · Non-telomeric monosomy 10q

Non-distal deletion 12q syndrome

Non-distal monosomy 12q · Non-telomeric monosomy 12q

OBSOLETE: Distal monosomy 20q

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

Partial autosomal deletion syndrome

Partial autosomal monosomy

Partial deletion of chromosome 9 syndrome

Partial monosomy of chromosome 9

Phelan-McDermid syndrome due to 22q13.3 deletion

22q13.3 deletion · Chromosome 22q13.3 deletion syndrome

Potocki-Shaffer syndrome

11p11.2 deletion · Proximal 11p deletion syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21