Rare Disease Library

2q13 microdeletion syndrome

del2q13 syndrome

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

2q32q33 deletion syndrome

Monosomy 2q32q33 · Del(2)(q32q33)

2q37 microdeletion syndrome

Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome

3p25.3 microdeletion syndrome

Del(3)p(25.3) · Intellectual disability-epilepsy-stereotypic hand movement syndrome

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

3q26q27 microdeletion syndrome

Del(3)(q26q27) · Monosomy 3q26q27

3q26q28 deletion syndrome

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

3q27.3 microdeletion syndrome

Del(3)(q27.3)

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

4q21 microdeletion syndrome

Del(4)(q21) · Monosomy 4q21

4q25 proximal deletion syndrome

Proximal del(4)(q25) · Proximal monosomy 4q25

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

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 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

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

9q33.3q34.11 microdeletion syndrome

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

Acropectorovertebral dysplasia

F syndrome

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

Autosomal dominant deafness-onychodystrophy syndrome

DDOD syndrome · Autosomal dominant hearing loss-onychodystrophy syndrome

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

C syndrome

OTCS · Opitz C trigonocephaly

CADDS

Contiguous ABCD1 DXS1357E deletion syndrome · Zellweger-like contiguous gene deletion syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

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

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

Dinno syndrome

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

Deficiency in anterior pituitary function-variable immunodeficiency syndrome

DAVID syndrome

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome