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 Wide nose, related diseases and genetic alterations
Abnormality of the skeletal system and Abnormal cardiac septum morphology, related diseases and genetic alterations
Abnormality of the skeletal system and Abnormality of the liver, related diseases and genetic alterations
Abnormality of the skeletal system and Abnormality of the metaphysis, related diseases and genetic alterations
Abnormality of the skeletal system and Agenesis of corpus callosum, related diseases and genetic alterations
Abnormality of the skeletal system and Alzheimer disease, related diseases and genetic alterations
Abnormality of the skeletal system and Apnea, related diseases and genetic alterations
Abnormality of the skeletal system and Apraxia, related diseases and genetic alterations
Abnormality of the skeletal system and Arachnodactyly, related diseases and genetic alterations
Abnormality of the skeletal system and Arthritis, related diseases and genetic alterations
Abnormality of the skeletal system and Ascites, related diseases and genetic alterations
Abnormality of the skeletal system and Asthma, related diseases and genetic alterations
Abnormality of the skeletal system and Astigmatism, related diseases and genetic alterations
Abnormality of the skeletal system and Atherosclerosis, related diseases and genetic alterations
Abnormality of the skeletal system and Atrial septal defect, related diseases and genetic alterations
Abnormality of the skeletal system and Attention deficit hyperactivity disorder, related diseases and genetic alterations
Abnormality of the skeletal system and Babinski sign, related diseases and genetic alterations
Abnormality of the skeletal system and Bifid uvula, related diseases and genetic alterations
Abnormality of the skeletal system and Blue sclerae, related diseases and genetic alterations
Abnormality of the skeletal system and Bone marrow hypocellularity, related diseases and genetic alterations