Rare Disease Library

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

9p13 microdeletion syndrome

Del(9)(p13) · Monosomy 9p13

9q21.13 microdeletion syndrome

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

Alagille syndrome due to 20p12 microdeletion

Alagille syndrome due to del(20)(p12) · Alagille syndrome due to monosomy 20p12

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

Beckwith-Wiedemann syndrome due to 11p15 microdeletion

Chromosome Y microdeletion syndrome

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

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

Del(15)(q14) · Monosomy 15q14

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

7q36.3 microduplication syndrome · Dup(7)(q36.3)

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

Distal 16p11.2 microdeletion syndrome

Distal del(16)(p11.2) · Distal monosomy 16p11.2

Distal 17p13.1 microdeletion syndrome

Distal del(17)(p13.1)

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 22q11.2 microduplication syndrome

Distal dup(22)(q11.2) · Distal trisomy 22q11.2

Distal 7q11.23 microdeletion syndrome

Distal del(7)(q11.23) · Distal monosomy 7q11.23

Distal 7q11.23 microduplication syndrome

Distal dup(7)(q11.23) · Distal trisomy 7q11.23

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

Distal limb deficiencies-micrognathia syndrome

10q24 microduplication syndrome · Buttiens-Fryns syndrome

Distal Xq28 microduplication syndrome

Int22h1/Int22h2 mediated-Xq28 microduplication syndrome · Distal dup(X)q(28)

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

21q22.13q22.2 microdeletion syndrome · Del(21)(q22.13q22.2)

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion · 10p12p11 microdeletion syndrome

FOXG1 syndrome due to 14q12 microdeletion

Del(14)(q12) · Monosomy 14q12

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

Jacobsen syndrome

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

Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion

Maternal del(14)(q32.2) · Maternal monosomy 14q32.2

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)