Rare Disease Library

Non-distal duplication 13q syndrome

Non-distal trisomy 13q · Non-telomeric trisomy 13q

Non-distal duplication 9q syndrome

Non-distal trisomy 9q · Non-telomeric trisomy 9q

OBSOLETE: MECP2 duplication syndrome

OBSOLETE: X-linked intellectual disability-hypotonia-recurrent Infections syndrome · OBSOLETE: Lubs-Arena syndrome

Partial duplication of chromosome 11 syndrome

Partial trisomy of chromosome 11

Partial duplication of chromosome 2 syndrome

Partial trisomy of chromosome 2

Partial duplication of chromosome 20 syndrome

Partial trisomy of chromosome 20

Paternal 20q13.2q13.3 microdeletion syndrome

Paternal del(20)(q13.2q13.3) · Paternal monosomy 20q13.2q13.3

PMP22-RAI1 contiguous gene duplication syndrome

Yuan-Harel-Lupski syndrome · 17p11.2p12 microduplication syndrome

Proximal 16p11.2 microdeletion syndrome

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

Proximal 16p11.2 microduplication syndrome

Proximal dup(16)(p11.2) · Proximal trisomy 16p11.2

Proximal Xq28 duplication syndrome

MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

5q31.3 microdeletion syndrome · Del(5)(q31.3)

Silver-Russell syndrome due to 11p15 microduplication

Silver-Russell syndrome due to 7p11.2p13 microduplication

Silver-Russell syndrome due to 7p11.2-p13 microduplication · Silver-Russell syndrome due to dup(7)(p11.2p13)

Smith-Magenis syndrome

17p11.2 microdeletion syndrome

Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

Syndactyly-nystagmus syndrome due to dup(2)(q31.1) · Syndactyly-nystagmus syndrome due to trisomy 2q31.1

X-linked Alport syndrome-diffuse leiomyomatosis

Xq22.3 microdeletion syndrome

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome

Xp22.13p22.2 duplication syndrome

Dup(X)(p22) · Dup(X)(p22.13p22.2)

Xp22.3 microdeletion syndrome

Del(X)(p23)

Xq12-q13.3 duplication syndrome

Dup(X)(q12-q13.3) · Kaya-Prontera syndrome

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

Xq25 microduplication syndrome

Dup(X)(q25) · Xq25 microtriplication

Xq27.3q28 duplication syndrome

Dup(X)(q27.3q28) · Trisomy Xq27.3-q28

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion

10p15.3 microdeletion syndrome · Del(10)(p15.3)