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.


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Signs and Symptoms by name

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