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 Dilatation, related diseases and genetic alterations
Abnormal facial shape and Dilated cardiomyopathy, related diseases and genetic alterations
Abnormal facial shape and Distal amyotrophy, related diseases and genetic alterations
Abnormal facial shape and Distal muscle weakness, related diseases and genetic alterations
Abnormal facial shape and Distal sensory impairment, related diseases and genetic alterations
Abnormal facial shape and Dolichocephaly, related diseases and genetic alterations
Abnormal facial shape and Downslanted palpebral fissures, related diseases and genetic alterations
Abnormal facial shape and Downturned corners of mouth, related diseases and genetic alterations
Abnormal facial shape and Dry skin, related diseases and genetic alterations
Abnormal facial shape and Dysarthria, related diseases and genetic alterations
Abnormal facial shape and Dyskinesia, related diseases and genetic alterations
Abnormal facial shape and Dysmetria, related diseases and genetic alterations
Abnormal facial shape and Dysphagia, related diseases and genetic alterations
Abnormal facial shape and Dyspnea, related diseases and genetic alterations
Abnormal facial shape and Dystonia, related diseases and genetic alterations
Abnormal facial shape and Ectodermal dysplasia, related diseases and genetic alterations
Abnormal facial shape and Eczema, related diseases and genetic alterations
Abnormal facial shape and Edema, related diseases and genetic alterations
Abnormal facial shape and EEG abnormality, related diseases and genetic alterations
Abnormal facial shape and Elevated hepatic transaminase, related diseases and genetic alterations