Rare Disease Library

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

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)