Symptoms

The first step in rare disease diagnosis is to assess the patient's health and phenotypic information. We have compiled some general information for combinations of phenotypes that appear in the clinic. For each set of symptoms we show related diseases and genetic information. Once a medical doctor has found a potential diagnosis, the causative mutation can be confirmed through genotyping or sequencing.

Rare Disease Signs and Symptoms by name

Name
Anemia and Limb-girdle muscular dystrophy, related diseases and genetic alterations View info
Anemia and Lower limb muscle weakness, related diseases and genetic alterations View info
Anemia and Lumbar hyperlordosis, related diseases and genetic alterations View info
Anemia and Lymphedema, related diseases and genetic alterations View info
Anemia and Macrocephaly, related diseases and genetic alterations View info
Anemia and Macroglossia, related diseases and genetic alterations View info
Anemia and Macular degeneration, related diseases and genetic alterations View info
Anemia and Metabolic acidosis, related diseases and genetic alterations View info
Anemia and Microcornea, related diseases and genetic alterations View info
Anemia and Micropenis, related diseases and genetic alterations View info
Anemia and Microphthalmia, related diseases and genetic alterations View info
Anemia and Migraine, related diseases and genetic alterations View info
Anemia and Mitral valve prolapse, related diseases and genetic alterations View info
Anemia and Motor delay, related diseases and genetic alterations View info
Anemia and Muscular dystrophy, related diseases and genetic alterations View info
Anemia and Myalgia, related diseases and genetic alterations View info
Anemia and Myoclonus, related diseases and genetic alterations View info
Anemia and Nail dysplasia, related diseases and genetic alterations View info
Anemia and Nail dystrophy, related diseases and genetic alterations View info
Anemia and Neonatal hypotonia, related diseases and genetic alterations View info