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 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 Anteverted nares, 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 Arthritis, related diseases and genetic alterations
Abnormal facial shape and Arthrogryposis multiplex congenita, 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
Abnormal facial shape and Atherosclerosis, related diseases and genetic alterations
Abnormal facial shape and Atopic dermatitis, related diseases and genetic alterations
Abnormal facial shape and Atrial fibrillation, related diseases and genetic alterations
Abnormal facial shape and Atrial septal defect, related diseases and genetic alterations
Abnormal facial shape and Attention deficit hyperactivity disorder, related diseases and genetic alterations
Abnormal facial shape and Autism, related diseases and genetic alterations
Abnormal facial shape and Azoospermia, related diseases and genetic alterations
Abnormal facial shape and Bifid uvula, related diseases and genetic alterations
Abnormal facial shape and Bipolar affective disorder, related diseases and genetic alterations
Abnormal facial shape and Blepharophimosis, related diseases and genetic alterations