Rare Disease Library

Distal duplication 14q syndrome

Telomeric duplication 14q · Trisomy 14qter

Distal duplication 15q syndrome

Distal trisomy 15q · Telomeric duplication 15q

Distal duplication 16q syndrome

Distal trisomy 16q · Telomeric duplication 16q

Distal duplication 17q syndrome

Distal trisomy 17q · Telomeric duplication 17q

Distal duplication 18q syndrome

Distal trisomy 18q · Telomeric duplication 18q

Distal duplication 19q syndrome

Telomeric duplication 19q · Trisomy 19qter

Distal duplication 5q syndrome

Distal trisomy 5q · Telomeric duplication 5q

Distal monosomy 7q36 syndrome

Distal deletion 7q36 · Monosomy 7qter

Distal triplication 15q syndrome

Distal tetrasomy 15q · Tetrasomy 15(q25-qter)

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

21q22.13q22.2 microdeletion syndrome · Del(21)(q22.13q22.2)

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion · 10p12p11 microdeletion syndrome

FOXG1 syndrome due to 14q12 microdeletion

Del(14)(q12) · Monosomy 14q12

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

Ichthyosis-short stature-brachydactyly-microspherophakia syndrome

15q26.3 microdeletion syndrome

Inverted duplicated chromosome 15 syndrome

Inv dup (15) syndrome · idic (15) syndrome

Jacobsen syndrome

Chromosome 11q deletion syndrome · Del(11)(q23.3)

Kleefstra syndrome due to 9q34 microdeletion

9q subtelomeric deletion syndrome · 9qSTDS

Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster

Lethal 1p36.33 deletion syndrome

Mesomelia-synostoses syndrome

8q13 microdeletion syndrome · Del(8)q(13)

Miller-Dieker syndrome

Lissencephaly due to 17p13.3 deletion · Monosomy 17p13.3

Mitochondrial DNA depletion syndrome

mtDNA depletion syndrome

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Multiple mitochondrial DNA deletion syndrome

Multiple mtDNA deletion 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

OBSOLETE: Distal monosomy 20q

OBSOLETE: Monosomy 20qter · OBSOLETE: Distal deletion 20q

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

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

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

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

X-linked Alport syndrome-diffuse leiomyomatosis

Xq22.3 microdeletion syndrome