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.

Symptoms by name

Name
Abnormal facial shape and Abdominal distention Diseases and genetic alterations
Abnormal facial shape and Abdominal pain Diseases and genetic alterations
Abnormal facial shape and Abnormal bleeding Diseases and genetic alterations
Abnormal facial shape and Abnormal blistering of the skin Diseases and genetic alterations
Abnormal facial shape and Abnormal heart morphology Diseases and genetic alterations
Abnormal facial shape and Abnormal pyramidal signs Diseases and genetic alterations
Abnormal facial shape and Abnormality of cardiovascular system morphology Diseases and genetic alterations
Abnormal facial shape and Abnormality of extrapyramidal motor function Diseases and genetic alterations
Abnormal facial shape and Abnormality of eye movement Diseases and genetic alterations
Abnormal facial shape and Abnormality of lung morphology Diseases and genetic alterations
Abnormal facial shape and Abnormality of metabolism/homeostasis Diseases and genetic alterations
Abnormal facial shape and Abnormality of mitochondrial metabolism Diseases and genetic alterations
Abnormal facial shape and Abnormality of movement Diseases and genetic alterations
Abnormal facial shape and Abnormality of skin pigmentation Diseases and genetic alterations
Abnormal facial shape and Abnormality of the cardiac septa Diseases and genetic alterations
Abnormal facial shape and Abnormality of the cardiovascular system Diseases and genetic alterations
Abnormal facial shape and Abnormality of the cerebellum Diseases and genetic alterations
Abnormal facial shape and Abnormality of the cerebral white matter Diseases and genetic alterations
Abnormal facial shape and Abnormality of the dentition Diseases and genetic alterations
Abnormal facial shape and Abnormality of the eye Diseases and genetic alterations