Rare Disease Library

6q terminal deletion syndrome

6q16 microdeletion syndrome

Del(6)(q16) · Monosomy 6q16

6q25.1 microdeletion syndrome

6q25.2q25.3 microdeletion syndrome

Del(6)(q25.2q25.3) · Monosomy 6q25.2q25.3

7q31 microdeletion syndrome

Del(7)(q31) · Monosomy 7q31

8p inverted duplication/deletion syndrome

Invdupdel(8p) · Inverted 8p duplication/deletion syndrome

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

8p23.1 microdeletion syndrome

Del(8)(p23.1) · Monosomy 8p23.1

8q22.1 microdeletion syndrome

Monosomy 8q22.1 · Nablus mask-like facial syndrome

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

9p13 microdeletion syndrome

Del(9)(p13) · Monosomy 9p13

9q31.1q31.3 microdeletion syndrome

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

9q33.3q34.11 microdeletion syndrome

Monosomy 9q33.3q34.11 · Deletion 9q33.3q34.11

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

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

Anophthalmia-hypothalamo-pituitary insufficiency syndrome

14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome

Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion

Del(15)(q14) · Monosomy 15q14

Contractures-developmental delay-Pierre Robin syndrome

5q23 microdeletion syndrome

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

Distal 17p13.3 microdeletion syndrome

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

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

Ichthyosis-short stature-brachydactyly-microspherophakia syndrome

15q26.3 microdeletion 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)

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