Rare Disease Library

Autosomal trisomy syndrome

Autosomal duplication

Partial autosomal duplication/triplication syndrome

Partial autosomal trisomy/tetrasomy

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

4p16.3 microduplication syndrome

Distal duplication 4p · Distal trisomy 4p

Autosomal dominant complex spastic paraplegia

Autosomal dominant complex HSP · Autosomal dominant complex SPG

Autosomal monosomy syndrome

Autosomal deletion

Autosomal systemic lupus erythematosus

Autosomal SLE · Disseminated lupus erythematosus

Caudal duplication

Dipygus · Split notochord syndrome

Diprosopus

Diprosopia · Craniofacial duplication

Duplication of the pituitary gland

DPG-plus syndrome · Duplication of the pituitary gland-plus syndrome

Duplication of urethra

Isolated anal canal duplication

ACD

Isolated duodenal duplication

Isolated duplication of the duodenum

Isolated rectal duplication

OBSOLETE: Duplication 4q

OBSOLETE: Trisomy 4q

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

Trisomy 12p syndrome

Duplication 12p

Trisomy 18 syndrome

Chromosome 18 duplication · Edwards syndrome

Trisomy 18p syndrome

Duplication 18p · Duplication of the short arm of chromosome 18

Trisomy 1q syndrome

Duplication 1q

Trisomy 20p syndrome

Dup(20p) · Duplication of 20p

Trisomy 4p syndrome

Trisomy of the short arm of chromosome 4 · Duplication 4p

Trisomy 5p syndrome

Duplication 5p · Duplication of the short arm of chromosome 5

Trisomy 8p syndrome

Duplication 8p

Trisomy 8q syndrome

Duplication 8q

Trisomy 9p syndrome

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

Xp22.13p22.2 duplication syndrome

Dup(X)(p22) · Dup(X)(p22.13p22.2)