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 Hypothyroidism, related diseases and genetic alterations	View info
Peripheral neuropathy and Ichthyosis, related diseases and genetic alterations	View info
Peripheral neuropathy and Increased serum lactate, related diseases and genetic alterations	View info
Peripheral neuropathy and Inguinal hernia, related diseases and genetic alterations	View info
Peripheral neuropathy and Intellectual disability, profound, related diseases and genetic alterations	View info
Peripheral neuropathy and Intestinal malrotation, related diseases and genetic alterations	View info
Peripheral neuropathy and Irritability, related diseases and genetic alterations	View info
Peripheral neuropathy and Ischemic stroke, related diseases and genetic alterations	View info
Peripheral neuropathy and Jaundice, related diseases and genetic alterations	View info
Peripheral neuropathy and Joint hyperflexibility, related diseases and genetic alterations	View info
Peripheral neuropathy and Joint laxity, related diseases and genetic alterations	View info
Peripheral neuropathy and Joint stiffness, related diseases and genetic alterations	View info
Peripheral neuropathy and Kyphosis, related diseases and genetic alterations	View info
Peripheral neuropathy and Lactic acidosis, related diseases and genetic alterations	View info
Peripheral neuropathy and Large fontanelles, related diseases and genetic alterations	View info
Peripheral neuropathy and Lethargy, related diseases and genetic alterations	View info
Peripheral neuropathy and Leukoencephalopathy, related diseases and genetic alterations	View info
Peripheral neuropathy and Limb undergrowth, related diseases and genetic alterations	View info
Peripheral neuropathy and Limb-girdle muscular dystrophy, related diseases and genetic alterations	View info
Peripheral neuropathy and Low-set ears, related diseases and genetic alterations	View info

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