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 Alzheimer disease, related diseases and genetic alterations
Abnormal facial shape and Ambiguous genitalia, related diseases and genetic alterations
Abnormal facial shape and Amenorrhea, related diseases and genetic alterations
Abnormal facial shape and Amyotrophic lateral sclerosis, related diseases and genetic alterations
Abnormal facial shape and Anal atresia, related diseases and genetic alterations
Abnormal facial shape and Anorexia, related diseases and genetic alterations
Abnormal facial shape and Anteverted nares, related diseases and genetic alterations
Abnormal facial shape and Anxiety, related diseases and genetic alterations
Abnormal facial shape and Aortic valve stenosis, related diseases and genetic alterations
Abnormal facial shape and Apnea, related diseases and genetic alterations
Abnormal facial shape and Apraxia, related diseases and genetic alterations
Abnormal facial shape and Arachnodactyly, related diseases and genetic alterations
Abnormal facial shape and Areflexia, related diseases and genetic alterations
Abnormal facial shape and Arrhythmia, related diseases and genetic alterations
Abnormal facial shape and Arthralgia, related diseases and genetic alterations
Abnormal facial shape and Arthritis, related diseases and genetic alterations
Abnormal facial shape and Arthrogryposis multiplex congenita, related diseases and genetic alterations
Abnormal facial shape and Ascites, related diseases and genetic alterations
Abnormal facial shape and Asthma, related diseases and genetic alterations
Abnormal facial shape and Astigmatism, related diseases and genetic alterations