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
Intellectual disability, severe and Lethargy, related diseases and genetic alterations	View info
Intellectual disability, severe and Limb-girdle muscular dystrophy, related diseases and genetic alterations	View info
Intellectual disability, severe and Lissencephaly, related diseases and genetic alterations	View info
Intellectual disability, severe and Low posterior hairline, related diseases and genetic alterations	View info
Intellectual disability, severe and Lower limb muscle weakness, related diseases and genetic alterations	View info
Intellectual disability, severe and Malabsorption, related diseases and genetic alterations	View info
Intellectual disability, severe and Memory impairment, related diseases and genetic alterations	View info
Intellectual disability, severe and Meningitis, related diseases and genetic alterations	View info
Intellectual disability, severe and Mental deterioration, related diseases and genetic alterations	View info
Intellectual disability, severe and Metabolic acidosis, related diseases and genetic alterations	View info
Intellectual disability, severe and Microcornea, related diseases and genetic alterations	View info
Intellectual disability, severe and Micromelia, related diseases and genetic alterations	View info
Intellectual disability, severe and Micropenis, related diseases and genetic alterations	View info
Intellectual disability, severe and Microphthalmia, related diseases and genetic alterations	View info
Intellectual disability, severe and Microtia, related diseases and genetic alterations	View info
Intellectual disability, severe and Nail dystrophy, related diseases and genetic alterations	View info
Intellectual disability, severe and Narrow chest, related diseases and genetic alterations	View info
Intellectual disability, severe and Narrow mouth, related diseases and genetic alterations	View info
Intellectual disability, severe and Nausea and vomiting, related diseases and genetic alterations	View info
Intellectual disability, severe and Nephrolithiasis, related diseases and genetic alterations	View info

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