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
Immunodeficiency and Delayed puberty, related diseases and genetic alterations View info
Immunodeficiency and Dental crowding, related diseases and genetic alterations View info
Immunodeficiency and Dental malocclusion, related diseases and genetic alterations View info
Immunodeficiency and Depressivity, related diseases and genetic alterations View info
Immunodeficiency and Developmental regression, related diseases and genetic alterations View info
Immunodeficiency and Difficulty walking, related diseases and genetic alterations View info
Immunodeficiency and Dilatation, related diseases and genetic alterations View info
Immunodeficiency and Distal sensory impairment, related diseases and genetic alterations View info
Immunodeficiency and Dysarthria, related diseases and genetic alterations View info
Immunodeficiency and Dysphagia, related diseases and genetic alterations View info
Immunodeficiency and Dystonia, related diseases and genetic alterations View info
Immunodeficiency and Ectodermal dysplasia, related diseases and genetic alterations View info
Immunodeficiency and Eczema, related diseases and genetic alterations View info
Immunodeficiency and Epileptic encephalopathy, related diseases and genetic alterations View info
Immunodeficiency and Erythema, related diseases and genetic alterations View info
Immunodeficiency and Fatigue, related diseases and genetic alterations View info
Immunodeficiency and Fever, related diseases and genetic alterations View info
Immunodeficiency and Finger syndactyly, related diseases and genetic alterations View info
Immunodeficiency and Frontal bossing, related diseases and genetic alterations View info
Immunodeficiency and Gynecomastia, related diseases and genetic alterations View info