Rare Disease Library

3q26q28 deletion syndrome

Del(3)(q26q28) · Monosomy 3q26q28 syndrome

2p25.3 microduplication syndrome

Trisomy 2p25.3 syndrome · Dup(2)(p25.3)

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

3q26q27 microdeletion syndrome

Del(3)(q26q27) · Monosomy 3q26q27

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

5q22 microdeletion syndrome

Monosomy 5q22 syndrome · Del(5)(q22) syndrome

Alagille syndrome due to 20p12 microdeletion

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

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

Autosomal monosomy syndrome

Autosomal deletion

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Distal monosomy 7q36 syndrome

Distal deletion 7q36 · Monosomy 7qter

Familial monosomy 7 syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

MOMES syndrome

Kleefstra syndrome due to 9q34 microdeletion

9q subtelomeric deletion syndrome · 9qSTDS

Microphthalmia-brain atrophy syndrome

MCOPS10 · MOBA syndrome

MOMO syndrome

Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome · Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome

Monosomy 13q14 syndrome

Del(13)(q14) · Deletion 13q14

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 22 syndrome

Del(22) · Deletion 22

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Monosomy 9q22.3 syndrome

Microdeletion 9q22.3

Monosomy X syndrome

MORM syndrome

Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Morvan syndrome

Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome · Morvan fibrillary chorea

Mosaic monosomy X syndrome

Mosaic trisomy 1 syndrome

Mosaic trisomy chromosome 1 · Trisomy 1 mosaicism

Mosaic trisomy 10 syndrome

Trisomy 10 mosaicism · Mosaic trisomy chromosome 10

Mosaic trisomy 12 syndrome

Mosaic trisomy chromosome 12 · Trisomy 12 mosaicism

Mosaic trisomy 14 syndrome

Mosaic trisomy chromosome 14 · Trisomy 14 mosaicism

Mosaic trisomy 15 syndrome

Trisomy 15 mosaicism · Mosaic trisomy chromosome 15

Mosaic trisomy 16 syndrome

Mosaic trisomy chromosome 16 · Trisomy 16 mosaicism

Mosaic trisomy 17 syndrome

Trisomy 17 mosaicism · Mosaic trisomy chromosome 17

Mosaic trisomy 2 syndrome

Trisomy 2 mosaicism · Mosaic trisomy chromosome 2

Mosaic trisomy 20 syndrome

Trisomy 20 mosaicism · Mosaic trisomy chromosome 20

Mosaic trisomy 22 syndrome

Mosaic trisomy chromosome 22 · Trisomy 22 mosaicism

Mosaic trisomy 3 syndrome

Trisomy 3 mosaicism · Mosaic trisomy chromosome 3

Mosaic trisomy 4 syndrome

Mosaic trisomy chromosome 4 · Trisomy 4 mosaicism

Mosaic trisomy 5 syndrome

Trisomy 5 mosaicism · Mosaic trisomy chromosome 5

Mosaic trisomy 7 syndrome

Mosaic trisomy chromosome 7 · Trisomy 7 mosaicism

Mosaic trisomy 8 syndrome

Warkany syndrome · Trisomy 8 mosaicism

Mosaic trisomy 9 syndrome

Mosaic trisomy chromosome 9 · Trisomy 9 mosaicism