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 Large fontanelles, related diseases and genetic alterations	View info
Low-set ears and Leukodystrophy, related diseases and genetic alterations	View info
Low-set ears and Limb muscle weakness, related diseases and genetic alterations	View info
Low-set ears and Limb-girdle muscular dystrophy, related diseases and genetic alterations	View info
Low-set ears and Long face, related diseases and genetic alterations	View info
Low-set ears and Low posterior hairline, related diseases and genetic alterations	View info
Low-set ears and Low-set, posteriorly rotated ears, related diseases and genetic alterations	View info
Low-set ears and Lower limb muscle weakness, related diseases and genetic alterations	View info
Low-set ears and Lymphadenopathy, related diseases and genetic alterations	View info
Low-set ears and Lymphedema, related diseases and genetic alterations	View info
Low-set ears and Lymphopenia, related diseases and genetic alterations	View info
Low-set ears and Macrotia, related diseases and genetic alterations	View info
Low-set ears and Malabsorption, related diseases and genetic alterations	View info
Low-set ears and Mental deterioration, related diseases and genetic alterations	View info
Low-set ears and Metabolic acidosis, related diseases and genetic alterations	View info
Low-set ears and Micropenis, related diseases and genetic alterations	View info
Low-set ears and Microphthalmia, related diseases and genetic alterations	View info
Low-set ears and Microtia, related diseases and genetic alterations	View info
Low-set ears and Mitral valve prolapse, related diseases and genetic alterations	View info
Low-set ears and Narrow chest, related diseases and genetic alterations	View info

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