Genetic Disorders Directory
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- Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID): Symptoms, Causes, and Treatments
- Alpha-1 Antitrypsin Deficiency
- Alzehimer's Disease Genetics Fact Sheet
- Cat Eye Syndrome
- Cushing's Syndrome
- Ear, Patella, Short Stature Syndrome
- Fabry Disease
- Ferroportin Disease
- Hereditary Angioedema: Causes, Symptoms, and Treatment
- Hereditary Hyperphosphatasia
- Human HOXA1 Syndromes
- Hunter Syndrome (MPS II)
- Hyper IgD syndrome
- Inherited Lipodystrophy
- Jervell and Lange-Nielsen Syndrome
- Jumping Frenchmen of Maine
- Juvenile Macular Degeneration: Stargardt's and Best Disease
- Keratitis Ichthyosis Deafness Syndrome
- Leber Hereditary Optic Neuropathy
- Lenz Microphthalmia Syndrome
- Megalocornea Mental Retardation Syndrome
- Muckle-Wells Syndrome
- Mucopolysaccharidosis I (MPS I)
- Multiple Endocrine Neoplasia Type 1
- OSMED, Heterozygous
- OSMED, Homozygous
- Pompe Disease: Learn the Details About This Rare Disorder
- Progeria
- Retinitis Pigmentosa
- Segawa Syndrome
- Tetrahydrobiopterin Deficiency
- Transthyretin Familial Amyloid Polyneuropathy
- Tuberous Sclerosis Diagnosis, Symptoms, and Treatment
- What Is Gaucher's Disease?
- Wolman Disease