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 Combined immunodeficiency, related diseases and genetic alterations View info
Abnormal facial shape and Conductive hearing impairment, related diseases and genetic alterations View info
Abnormal facial shape and Congenital diaphragmatic hernia, related diseases and genetic alterations View info
Abnormal facial shape and Congenital muscular dystrophy, related diseases and genetic alterations View info
Abnormal facial shape and Constipation, related diseases and genetic alterations View info
Abnormal facial shape and Coronary artery atherosclerosis, related diseases and genetic alterations View info
Abnormal facial shape and Cutaneous photosensitivity, related diseases and genetic alterations View info
Abnormal facial shape and Cyanosis, related diseases and genetic alterations View info
Abnormal facial shape and Dandy-Walker malformation, related diseases and genetic alterations View info
Abnormal facial shape and Dementia, related diseases and genetic alterations View info
Abnormal facial shape and Dental malocclusion, related diseases and genetic alterations View info
Abnormal facial shape and Depressed nasal ridge, related diseases and genetic alterations View info
Abnormal facial shape and Depressivity, related diseases and genetic alterations View info
Abnormal facial shape and Diarrhea, related diseases and genetic alterations View info
Abnormal facial shape and Dilated cardiomyopathy, related diseases and genetic alterations View info
Abnormal facial shape and Distal sensory impairment, related diseases and genetic alterations View info
Abnormal facial shape and Downturned corners of mouth, related diseases and genetic alterations View info
Abnormal facial shape and Dysmetria, related diseases and genetic alterations View info
Abnormal facial shape and Dysphagia, related diseases and genetic alterations View info
Abnormal facial shape and Dystonia, related diseases and genetic alterations View info