Rare Disease Library

Autosomal monosomy syndrome

Autosomal deletion

Partial autosomal deletion syndrome

Partial autosomal monosomy

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

2q37 microdeletion syndrome

Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

Autosomal systemic lupus erythematosus

Autosomal SLE · Disseminated lupus erythematosus

Autosomal trisomy syndrome

Autosomal duplication

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

Distal deletion 13q syndrome

Distal monosomy 13q · 13q32 deletion

Jacobsen syndrome

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

Monosomy 13q14 syndrome

Del(13)(q14) · Deletion 13q14

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 22 syndrome

Del(22) · Deletion 22

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

WAGR syndrome

Del(11)(p13) · Deletion 11p13

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p