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