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 High, narrow palate, related diseases and genetic alterations	View info
Peripheral neuropathy and Hip dislocation, related diseases and genetic alterations	View info
Peripheral neuropathy and Hip dysplasia, related diseases and genetic alterations	View info
Peripheral neuropathy and Hodgkin lymphoma, related diseases and genetic alterations	View info
Peripheral neuropathy and Hydrocephalus, related diseases and genetic alterations	View info
Peripheral neuropathy and Hydronephrosis, related diseases and genetic alterations	View info
Peripheral neuropathy and Hyperglycemia, related diseases and genetic alterations	View info
Peripheral neuropathy and Hyperhidrosis, related diseases and genetic alterations	View info
Peripheral neuropathy and Hyperkeratosis, related diseases and genetic alterations	View info
Peripheral neuropathy and Hypertonia, related diseases and genetic alterations	View info
Peripheral neuropathy and Hypertrichosis, related diseases and genetic alterations	View info
Peripheral neuropathy and Hypertrophic cardiomyopathy, related diseases and genetic alterations	View info
Peripheral neuropathy and Hypodontia, related diseases and genetic alterations	View info
Peripheral neuropathy and Hypoglycemia, related diseases and genetic alterations	View info
Peripheral neuropathy and Hypopigmentation of the skin, related diseases and genetic alterations	View info
Peripheral neuropathy and Hypoplasia of the corpus callosum, related diseases and genetic alterations	View info
Peripheral neuropathy and Hypoplasia of the maxilla, related diseases and genetic alterations	View info
Peripheral neuropathy and Hyporeflexia, related diseases and genetic alterations	View info
Peripheral neuropathy and Hypospadias, related diseases and genetic alterations	View info
Peripheral neuropathy and Hypotension, related diseases and genetic alterations	View info

499 of 625