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 Abnormality of the foot, related diseases and genetic alterations
Abnormal facial shape and Abnormality of the genital system, related diseases and genetic alterations
Abnormal facial shape and Abnormality of the kidney, related diseases and genetic alterations
Abnormal facial shape and Abnormality of the liver, related diseases and genetic alterations
Abnormal facial shape and Abnormality of the metaphysis, related diseases and genetic alterations
Abnormal facial shape and Abnormality of the nervous system, related diseases and genetic alterations
Abnormal facial shape and Abnormality of the pinna, related diseases and genetic alterations
Abnormal facial shape and Abnormality of the ribs, related diseases and genetic alterations
Abnormal facial shape and Abnormality of the skeletal system, related diseases and genetic alterations
Abnormal facial shape and Abnormality of the skin, related diseases and genetic alterations
Abnormal facial shape and Absent speech, related diseases and genetic alterations
Abnormal facial shape and Acidosis, related diseases and genetic alterations
Abnormal facial shape and Aciduria, related diseases and genetic alterations
Abnormal facial shape and Acute leukemia, related diseases and genetic alterations
Abnormal facial shape and Acute lymphoblastic leukemia, related diseases and genetic alterations
Abnormal facial shape and Acute myeloid leukemia, related diseases and genetic alterations
Abnormal facial shape and Aganglionic megacolon, related diseases and genetic alterations
Abnormal facial shape and Agenesis of corpus callosum, related diseases and genetic alterations
Abnormal facial shape and Aggressive behavior, related diseases and genetic alterations
Abnormal facial shape and Alopecia, related diseases and genetic alterations