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.

Rare Disease Signs and Symptoms by name

Name
Low-set ears and Abnormality of the liver, related diseases and genetic alterations	View info
Low-set ears and Abnormality of the pinna, related diseases and genetic alterations	View info
Low-set ears and Abnormality of the ribs, related diseases and genetic alterations	View info
Low-set ears and Abnormality of the skeletal system, related diseases and genetic alterations	View info
Low-set ears and Acidosis, related diseases and genetic alterations	View info
Low-set ears and Agenesis of corpus callosum, related diseases and genetic alterations	View info
Low-set ears and Aggressive behavior, related diseases and genetic alterations	View info
Low-set ears and Alopecia, related diseases and genetic alterations	View info
Low-set ears and Ambiguous genitalia, related diseases and genetic alterations	View info
Low-set ears and Anal atresia, related diseases and genetic alterations	View info
Low-set ears and Apnea, related diseases and genetic alterations	View info
Low-set ears and Apraxia, related diseases and genetic alterations	View info
Low-set ears and Arachnodactyly, related diseases and genetic alterations	View info
Low-set ears and Arthrogryposis multiplex congenita, related diseases and genetic alterations	View info
Low-set ears and Ascites, related diseases and genetic alterations	View info
Low-set ears and Asthma, related diseases and genetic alterations	View info
Low-set ears and Astigmatism, related diseases and genetic alterations	View info
Low-set ears and Atrial septal defect, related diseases and genetic alterations	View info
Low-set ears and Attention deficit hyperactivity disorder, related diseases and genetic alterations	View info
Low-set ears and Autism, related diseases and genetic alterations	View info

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