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
Muscular hypotonia and Fatigue, related diseases and genetic alterations View info
Muscular hypotonia and Febrile seizures, related diseases and genetic alterations View info
Muscular hypotonia and Fever, related diseases and genetic alterations View info
Muscular hypotonia and Flexion contracture, related diseases and genetic alterations View info
Muscular hypotonia and Frontal bossing, related diseases and genetic alterations View info
Muscular hypotonia and Full cheeks, related diseases and genetic alterations View info
Muscular hypotonia and Genu valgum, related diseases and genetic alterations View info
Muscular hypotonia and Glaucoma, related diseases and genetic alterations View info
Muscular hypotonia and Growth hormone deficiency, related diseases and genetic alterations View info
Muscular hypotonia and Gynecomastia, related diseases and genetic alterations View info
Muscular hypotonia and Hematuria, related diseases and genetic alterations View info
Muscular hypotonia and Hepatic fibrosis, related diseases and genetic alterations View info
Muscular hypotonia and Hepatitis, related diseases and genetic alterations View info
Muscular hypotonia and High myopia, related diseases and genetic alterations View info
Muscular hypotonia and Hip dysplasia, related diseases and genetic alterations View info
Muscular hypotonia and Hirsutism, related diseases and genetic alterations View info
Muscular hypotonia and Hydronephrosis, related diseases and genetic alterations View info
Muscular hypotonia and Hypercholesterolemia, related diseases and genetic alterations View info
Muscular hypotonia and Hyperinsulinemia, related diseases and genetic alterations View info
Muscular hypotonia and Hyperkeratosis, related diseases and genetic alterations View info