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
Abnormal facial shape and Eczema, related diseases and genetic alterations View info
Abnormal facial shape and Edema, related diseases and genetic alterations View info
Abnormal facial shape and Elevated hepatic transaminase, related diseases and genetic alterations View info
Abnormal facial shape and Epileptic encephalopathy, related diseases and genetic alterations View info
Abnormal facial shape and Esotropia, related diseases and genetic alterations View info
Abnormal facial shape and Everted lower lip vermilion, related diseases and genetic alterations View info
Abnormal facial shape and Facial asymmetry, related diseases and genetic alterations View info
Abnormal facial shape and Failure to thrive, related diseases and genetic alterations View info
Abnormal facial shape and Feeding difficulties in infancy, related diseases and genetic alterations View info
Abnormal facial shape and Finger syndactyly, related diseases and genetic alterations View info
Abnormal facial shape and Flat face, related diseases and genetic alterations View info
Abnormal facial shape and Focal seizures, related diseases and genetic alterations View info
Abnormal facial shape and Genu valgum, related diseases and genetic alterations View info
Abnormal facial shape and Glioma, related diseases and genetic alterations View info
Abnormal facial shape and Headache, related diseases and genetic alterations View info
Abnormal facial shape and Hematuria, related diseases and genetic alterations View info
Abnormal facial shape and Hemolytic anemia, related diseases and genetic alterations View info
Abnormal facial shape and Hepatic fibrosis, related diseases and genetic alterations View info
Abnormal facial shape and Hepatic steatosis, related diseases and genetic alterations View info
Abnormal facial shape and Heterotopia, related diseases and genetic alterations View info