Rare Disease Library

4q21 microdeletion syndrome

Del(4)(q21) · Monosomy 4q21

5q14.3 microdeletion syndrome

Del(5)(q14.3) · Monosomy 5q14.3

5q22 microdeletion syndrome

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

6p22 microdeletion syndrome

Del(6)(p22) · Monosomy 6p22

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

8p23.1 microdeletion syndrome

Del(8)(p23.1) · Monosomy 8p23.1

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

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

9q21.13 microdeletion syndrome

9q31.1q31.3 microdeletion syndrome

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

Alagille syndrome due to 20p12 microdeletion

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

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

Contractures-developmental delay-Pierre Robin syndrome

5q23 microdeletion syndrome

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

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 7q11.23 microdeletion syndrome

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

Distal deletion 12p syndrome

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

Distal deletion 6p syndrome

6p subtelomeric deletion syndrome · 6p25 microdeletion syndrome

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

Ichthyosis-short stature-brachydactyly-microspherophakia syndrome

15q26.3 microdeletion syndrome

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

Mesomelia-synostoses syndrome

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

Mowat-Wilson syndrome due to monosomy 2q22

Hirschsprung disease and intellectual disability due to 2q22 microdeletion · Hirschsprung disease and intellectual disability due to del(2)(q22)

Okihiro syndrome due to 20q13 microdeletion

Duane-radial ray syndrome due to monosomy 20q13 · Okihiro syndrome due to del(20)(q13)

Prader-Willi syndrome

Prader-Labhart-Willi syndrome

Prader-Willi syndrome due to imprinting mutation

Prader-Willi syndrome due to paternal 15q11q13 deletion

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2

Prader-Willi syndrome due to translocation

Prader-Willi-like syndrome

PWS-like

Proximal 16p11.2 microdeletion syndrome

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

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1