Rare Disease Library

Distal deletion 13q syndrome

Distal monosomy 13q · 13q32 deletion

Distal deletion 15q syndrome

Distal monosomy 15q · 15q26 deletion syndrome

Distal deletion 17q syndrome

Distal monosomy 17q · Monosomy 17qter

Distal deletion 1q syndrome

Distal monosomy 1q · Monosomy 1qter

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

Jacobsen syndrome

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

Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion

Maternal del(14)(q32.2) · Maternal monosomy 14q32.2

Miller-Dieker syndrome

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

PMP22-RAI1 contiguous gene duplication syndrome

Yuan-Harel-Lupski syndrome · 17p11.2p12 microduplication syndrome

Proximal 16p11.2 microdeletion syndrome

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

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

WAGR syndrome

Del(11)(p13) · Deletion 11p13

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23