Rare Disease Library

Phelan-McDermid syndrome due to 22q13.3 deletion

22q13.3 deletion · Chromosome 22q13.3 deletion syndrome

Prader-Willi syndrome due to paternal 15q11q13 deletion

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

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

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

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

Temple syndrome due to paternal 14q32.2 microdeletion

Paternal del(14)(q32.2)

X-linked Alport syndrome-diffuse leiomyomatosis

Xq22.3 microdeletion syndrome

Xp21 deletion syndrome

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

Xp22.3 microdeletion syndrome

Del(X)(p23)

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

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)