Rare Disease Library

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 22 syndrome

Del(22) · Deletion 22

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

Multiple mitochondrial DNA deletion syndrome

Multiple mtDNA deletion syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

N syndrome

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

Non-distal deletion 10q syndrome

Non-distal monosomy 10q · Non-telomeric monosomy 10q

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 short arm of chromosome 9 syndrome

Partial deletion of chromosome 9p · Partial monosomy of chromosome 9p

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

Proximal Xq28 duplication syndrome

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

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Rare developmental defect during embryogenesis

Malformation syndrome

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

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

Tetrasomy 9p syndrome

Isochromosome 9p

Triple A syndrome

2A syndrome · 3A syndrome

Trisomy 9p syndrome

Duplication 9p · Duplication of the short arm of chromosome 9