Rare Disease Library

Non-distal deletion 12q syndrome

Non-distal monosomy 12q · Non-telomeric monosomy 12q

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Partial autosomal deletion syndrome

Partial autosomal monosomy

Partial deletion of chromosome 1 syndrome

Partial monosomy of chromosome 1

Partial deletion of chromosome 10 syndrome

Partial monosomy of chromosome 10

Partial deletion of chromosome 11 syndrome

Partial monosomy of chromosome 11

Partial deletion of chromosome 12 syndrome

Partial monosomy of chromosome 12

Partial deletion of chromosome 16 syndrome

Partial monosomy of chromosome 16

Partial deletion of chromosome 17 syndrome

Partial monosomy of chromosome 17

Partial deletion of chromosome 18 syndrome

Partial monosomy of chromosome 18

Partial deletion of chromosome 19 syndrome

Partial monosomy of chromosome 19

Partial deletion of chromosome 2 syndrome

Partial monosomy of chromosome 2

Partial deletion of chromosome 20 syndrome

Partial monosomy of chromosome 20

Partial deletion of chromosome 3 syndrome

Partial monosomy of chromosome 3

Partial deletion of chromosome 4 syndrome

Partial monosomy of chromosome 4

Partial deletion of chromosome 5 syndrome

Partial monosomy of chromosome 5

Partial deletion of chromosome 6 syndrome

Partial monosomy of chromosome 6

Partial deletion of chromosome 7 syndrome

Partial monosomy of chromosome 7

Partial deletion of chromosome 8 syndrome

Partial monosomy of chromosome 8

Partial deletion of chromosome 9 syndrome

Partial monosomy of chromosome 9

Partial deletion of chromosome X syndrome

Partial monosomy of chromosome X

Partial deletion of the long arm of chromosome 15 syndrome

Partial deletion of chromosome 15q · Partial monosomy of chromosome 15q

Phelan-McDermid syndrome due to 22q13.3 deletion

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

Potocki-Shaffer syndrome

11p11.2 deletion · Proximal 11p deletion syndrome

Prader-Willi syndrome due to paternal 15q11q13 deletion

Proximal 16p11.2 microdeletion syndrome

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

Rare developmental defect during embryogenesis

Malformation syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

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

X-linked Alport syndrome-diffuse leiomyomatosis

Xq22.3 microdeletion syndrome

X-linked myotubular myopathy-abnormal genitalia syndrome

Xq28 contiguous gene deletion 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)