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 Frontal bossing, related diseases and genetic alterations	View info
Intellectual disability, severe and Full cheeks, related diseases and genetic alterations	View info
Intellectual disability, severe and Gait ataxia, related diseases and genetic alterations	View info
Intellectual disability, severe and Gait disturbance, related diseases and genetic alterations	View info
Intellectual disability, severe and Glucose intolerance, related diseases and genetic alterations	View info
Intellectual disability, severe and Hemolytic anemia, related diseases and genetic alterations	View info
Intellectual disability, severe and Hepatocellular carcinoma, related diseases and genetic alterations	View info
Intellectual disability, severe and Hepatosplenomegaly, related diseases and genetic alterations	View info
Intellectual disability, severe and Hernia, related diseases and genetic alterations	View info
Intellectual disability, severe and High forehead, related diseases and genetic alterations	View info
Intellectual disability, severe and Hip dislocation, related diseases and genetic alterations	View info
Intellectual disability, severe and Hip dysplasia, related diseases and genetic alterations	View info
Intellectual disability, severe and Hirsutism, related diseases and genetic alterations	View info
Intellectual disability, severe and Hodgkin lymphoma, related diseases and genetic alterations	View info
Intellectual disability, severe and Holoprosencephaly, related diseases and genetic alterations	View info
Intellectual disability, severe and Hydronephrosis, related diseases and genetic alterations	View info
Intellectual disability, severe and Hyperhidrosis, related diseases and genetic alterations	View info
Intellectual disability, severe and Hyperlipidemia, related diseases and genetic alterations	View info
Intellectual disability, severe and Hypermetropia, related diseases and genetic alterations	View info
Intellectual disability, severe and Hypertonia, related diseases and genetic alterations	View info

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