Rare Disease Library

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Bourneville disease · PKDTS

CADDS

Contiguous ABCD1 DXS1357E deletion syndrome · Zellweger-like contiguous gene deletion syndrome

Greig cephalopolysyndactyly-contiguous gene syndrome

GCP-CGS

Homozygous 2p21 microdeletion syndrome

2p21 contiguous gene deletion syndrome

PMP22-RAI1 contiguous gene duplication syndrome

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

X-linked myotubular myopathy-abnormal genitalia syndrome

Xq28 contiguous gene deletion syndrome

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome