Rare Disease Brochure LibRary

Explore our library of brochures about rare genetic diseases. Available brochures are listed in alphabetical order below.

Aicardi-Goutières Syndrome
Autosomal Dominant Inheritance
Autosomal Recessive Inheritance
Blue Eye Delay Syndrome
Brittle Hair Syndrome
Cartilage-Hair Hypoplasia
CEP55 Disorder
Cockayne Syndrome
Galloway-Mowat Syndrome
Glycogen Storage Disease
GM2 Synthase Deficiency
GM3 Synthase Deficiency
Hypertrophic Cardiomyopathy
Intellectual Developmental Disorder and Retinitis Pigmentosa
MASD Syndrome
Mast Syndrome
MOPD1
PMRED
Propionic Acidemia
MRT70
Sitosterolemia
Spastic Ataxia with Optic Atrophy
Troyer Syndrome