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 Frontal bossing, related diseases and genetic alterations	View info
Low-set ears and Gait disturbance, related diseases and genetic alterations	View info
Low-set ears and Gastrointestinal hemorrhage, related diseases and genetic alterations	View info
Low-set ears and Generalized seizures, related diseases and genetic alterations	View info
Low-set ears and Gliosis, related diseases and genetic alterations	View info
Low-set ears and Glomerulonephritis, related diseases and genetic alterations	View info
Low-set ears and Glucose intolerance, related diseases and genetic alterations	View info
Low-set ears and Growth hormone deficiency, related diseases and genetic alterations	View info
Low-set ears and Hematuria, related diseases and genetic alterations	View info
Low-set ears and Hemolytic anemia, related diseases and genetic alterations	View info
Low-set ears and Hepatocellular carcinoma, related diseases and genetic alterations	View info
Low-set ears and High forehead, related diseases and genetic alterations	View info
Low-set ears and High palate, related diseases and genetic alterations	View info
Low-set ears and High, narrow palate, related diseases and genetic alterations	View info
Low-set ears and Hip dysplasia, related diseases and genetic alterations	View info
Low-set ears and Hirsutism, related diseases and genetic alterations	View info
Low-set ears and Holoprosencephaly, related diseases and genetic alterations	View info
Low-set ears and Hydrocephalus, related diseases and genetic alterations	View info
Low-set ears and Hydronephrosis, related diseases and genetic alterations	View info
Low-set ears and Hyperlordosis, related diseases and genetic alterations	View info

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