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 Thin skin, related diseases and genetic alterations	View info
Immunodeficiency and Thrombocytopenia, related diseases and genetic alterations	View info
Immunodeficiency and Type I diabetes mellitus, related diseases and genetic alterations	View info
Immunodeficiency and Umbilical hernia, related diseases and genetic alterations	View info
Intellectual disability and Abnormal cerebellum morphology, related diseases and genetic alterations	View info
Intellectual disability and Abnormality of skin pigmentation, related diseases and genetic alterations	View info
Intellectual disability and Abnormality of the cerebral white matter, related diseases and genetic alterations	View info
Intellectual disability and Abnormality of the eye, related diseases and genetic alterations	View info
Intellectual disability and Aciduria, related diseases and genetic alterations	View info
Intellectual disability and Acute lymphoblastic leukemia, related diseases and genetic alterations	View info
Intellectual disability and Agenesis of corpus callosum, related diseases and genetic alterations	View info
Intellectual disability and Anal atresia, related diseases and genetic alterations	View info
Intellectual disability and Anemia, related diseases and genetic alterations	View info
Intellectual disability and Apraxia, related diseases and genetic alterations	View info
Intellectual disability and Arthritis, related diseases and genetic alterations	View info
Intellectual disability and Atrial fibrillation, related diseases and genetic alterations	View info
Intellectual disability and Attention deficit hyperactivity disorder, related diseases and genetic alterations	View info
Intellectual disability and Babinski sign, related diseases and genetic alterations	View info
Intellectual disability and Bifid uvula, related diseases and genetic alterations	View info
Intellectual disability and Blue sclerae, related diseases and genetic alterations	View info

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