Rare Disease Library

9q21.13 microdeletion syndrome

9q31.1q31.3 microdeletion syndrome

Del(9)(q31.1q31.3) · Monosomy 9q31.1q31.3

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type

Chromosome Y microdeletion syndrome

Male infertility due to chromosome Y microdeletion · Microdeletion of the AZF region on the Y chromosome

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

Distal 17p13.3 microdeletion syndrome

Distal del(17)(p13.3 ) · Distal monosomy 17p13.3

Distal 22q11.2 microdeletion syndrome

Distal del(22)(q11.2) · Distal monosomy 22q11.2

Distal deletion 10p syndrome

Distal monosomy 10p · Monosomy 10pter

Distal deletion 10q syndrome

Distal monosomy 10q · Monosomy 10qter

Distal deletion 12p syndrome

12p13.33 microdeletion syndrome · Del(12)(p13.33)

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 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

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

Homozygous 2p21 microdeletion syndrome

2p21 contiguous gene deletion syndrome

Ichthyosis-short stature-brachydactyly-microspherophakia syndrome

15q26.3 microdeletion syndrome

Isochromosome Y syndrome

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

Mesomelia-synostoses syndrome

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

Mitochondrial DNA depletion syndrome

mtDNA depletion syndrome

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

Partial autosomal deletion syndrome

Partial autosomal monosomy

Partial deletion of chromosome 1 syndrome

Partial monosomy of chromosome 1

Partial deletion of chromosome 10 syndrome

Partial monosomy of chromosome 10

Partial deletion of chromosome 11 syndrome

Partial monosomy of chromosome 11

Partial deletion of chromosome 12 syndrome

Partial monosomy of chromosome 12

Partial deletion of chromosome 16 syndrome

Partial monosomy of chromosome 16

Partial deletion of chromosome 17 syndrome

Partial monosomy of chromosome 17

Partial deletion of chromosome 18 syndrome

Partial monosomy of chromosome 18

Partial deletion of chromosome 19 syndrome

Partial monosomy of chromosome 19

Partial deletion of chromosome 2 syndrome

Partial monosomy of chromosome 2

Partial deletion of chromosome 20 syndrome

Partial monosomy of chromosome 20

Partial deletion of chromosome 3 syndrome

Partial monosomy of chromosome 3