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
Abnormality of the skeletal system and Apraxia, related diseases and genetic alterations View info
Abnormality of the skeletal system and Arachnodactyly, related diseases and genetic alterations View info
Abnormality of the skeletal system and Arthritis, related diseases and genetic alterations View info
Abnormality of the skeletal system and Ascites, related diseases and genetic alterations View info
Abnormality of the skeletal system and Asthma, related diseases and genetic alterations View info
Abnormality of the skeletal system and Astigmatism, related diseases and genetic alterations View info
Abnormality of the skeletal system and Atherosclerosis, related diseases and genetic alterations View info
Abnormality of the skeletal system and Atrial septal defect, related diseases and genetic alterations View info
Abnormality of the skeletal system and Attention deficit hyperactivity disorder, related diseases and genetic alterations View info
Abnormality of the skeletal system and Babinski sign, related diseases and genetic alterations View info
Abnormality of the skeletal system and Bifid uvula, related diseases and genetic alterations View info
Abnormality of the skeletal system and Blepharophimosis, related diseases and genetic alterations View info
Abnormality of the skeletal system and Blue sclerae, related diseases and genetic alterations View info
Abnormality of the skeletal system and Bone marrow hypocellularity, related diseases and genetic alterations View info
Abnormality of the skeletal system and Brachycephaly, related diseases and genetic alterations View info
Abnormality of the skeletal system and Broad nasal tip, related diseases and genetic alterations View info
Abnormality of the skeletal system and Bulbous nose, related diseases and genetic alterations View info
Abnormality of the skeletal system and Clinodactyly of the 5th finger, related diseases and genetic alterations View info
Abnormality of the skeletal system and Confusion, related diseases and genetic alterations View info
Abnormality of the skeletal system and Congenital cataract, related diseases and genetic alterations View info