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.


Signs and Symptoms by name

Name
Abnormal facial shape and Glucose intolerance, related diseases and genetic alterations
Abnormal facial shape and Growth hormone deficiency, related diseases and genetic alterations
Abnormal facial shape and Gynecomastia, related diseases and genetic alterations
Abnormal facial shape and Headache, related diseases and genetic alterations
Abnormal facial shape and Hematuria, related diseases and genetic alterations
Abnormal facial shape and Hemolytic anemia, related diseases and genetic alterations
Abnormal facial shape and Hepatic failure, related diseases and genetic alterations
Abnormal facial shape and Hepatic fibrosis, related diseases and genetic alterations
Abnormal facial shape and Hepatic steatosis, related diseases and genetic alterations
Abnormal facial shape and Hepatitis, related diseases and genetic alterations
Abnormal facial shape and Hepatocellular carcinoma, related diseases and genetic alterations
Abnormal facial shape and Hepatomegaly, related diseases and genetic alterations
Abnormal facial shape and Hepatosplenomegaly, related diseases and genetic alterations
Abnormal facial shape and Hernia, related diseases and genetic alterations
Abnormal facial shape and Heterotopia, related diseases and genetic alterations
Abnormal facial shape and High forehead, related diseases and genetic alterations
Abnormal facial shape and High myopia, related diseases and genetic alterations
Abnormal facial shape and High palate, related diseases and genetic alterations
Abnormal facial shape and High, narrow palate, related diseases and genetic alterations
Abnormal facial shape and Highly arched eyebrow, related diseases and genetic alterations