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
Visual impairment and Macrocephaly, related diseases and genetic alterations View info
Visual impairment and Macular degeneration, related diseases and genetic alterations View info
Visual impairment and Malabsorption, related diseases and genetic alterations View info
Visual impairment and Meningitis, related diseases and genetic alterations View info
Visual impairment and Metabolic acidosis, related diseases and genetic alterations View info
Visual impairment and Microcornea, related diseases and genetic alterations View info
Visual impairment and Micropenis, related diseases and genetic alterations View info
Visual impairment and Microtia, related diseases and genetic alterations View info
Visual impairment and Muscular dystrophy, related diseases and genetic alterations View info
Visual impairment and Myeloid leukemia, related diseases and genetic alterations View info
Visual impairment and Myocardial infarction, related diseases and genetic alterations View info
Visual impairment and Myopia, related diseases and genetic alterations View info
Visual impairment and Narrow mouth, related diseases and genetic alterations View info
Visual impairment and Nephrolithiasis, related diseases and genetic alterations View info
Visual impairment and Neuronal loss in central nervous system, related diseases and genetic alterations View info
Visual impairment and Nyctalopia, related diseases and genetic alterations View info
Visual impairment and Ophthalmoplegia, related diseases and genetic alterations View info
Visual impairment and Osteopenia, related diseases and genetic alterations View info
Visual impairment and Pancreatitis, related diseases and genetic alterations View info
Visual impairment and Paresthesia, related diseases and genetic alterations View info