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
Peripheral neuropathy and Recurrent fractures, related diseases and genetic alterations	View info
Peripheral neuropathy and Renal agenesis, related diseases and genetic alterations	View info
Peripheral neuropathy and Respiratory distress, related diseases and genetic alterations	View info
Peripheral neuropathy and Respiratory failure, related diseases and genetic alterations	View info
Peripheral neuropathy and Retinal detachment, related diseases and genetic alterations	View info
Peripheral neuropathy and Rheumatoid arthritis, related diseases and genetic alterations	View info
Peripheral neuropathy and Rod-cone dystrophy, related diseases and genetic alterations	View info
Peripheral neuropathy and Sarcoma, related diseases and genetic alterations	View info
Peripheral neuropathy and Short distal phalanx of finger, related diseases and genetic alterations	View info
Peripheral neuropathy and Short neck, related diseases and genetic alterations	View info
Peripheral neuropathy and Situs inversus totalis, related diseases and genetic alterations	View info
Peripheral neuropathy and Skeletal dysplasia, related diseases and genetic alterations	View info
Peripheral neuropathy and Skeletal muscle atrophy, related diseases and genetic alterations	View info
Peripheral neuropathy and Skin rash, related diseases and genetic alterations	View info
Peripheral neuropathy and Small nail, related diseases and genetic alterations	View info
Peripheral neuropathy and Spastic paraplegia, related diseases and genetic alterations	View info
Peripheral neuropathy and Spastic tetraplegia, related diseases and genetic alterations	View info
Peripheral neuropathy and Spina bifida, related diseases and genetic alterations	View info
Peripheral neuropathy and Splenomegaly, related diseases and genetic alterations	View info
Peripheral neuropathy and Squamous cell carcinoma, related diseases and genetic alterations	View info

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