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 Small for gestational age, related diseases and genetic alterations	View info
Intellectual disability, severe and Small hand, related diseases and genetic alterations	View info
Intellectual disability, severe and Spina bifida, related diseases and genetic alterations	View info
Intellectual disability, severe and Stomach cancer, related diseases and genetic alterations	View info
Intellectual disability, severe and Syncope, related diseases and genetic alterations	View info
Intellectual disability, severe and Synophrys, related diseases and genetic alterations	View info
Intellectual disability, severe and Systemic lupus erythematosus, related diseases and genetic alterations	View info
Intellectual disability, severe and Talipes, related diseases and genetic alterations	View info
Intellectual disability, severe and Tall stature, related diseases and genetic alterations	View info
Intellectual disability, severe and Tapered finger, related diseases and genetic alterations	View info
Intellectual disability, severe and Telecanthus, related diseases and genetic alterations	View info
Intellectual disability, severe and Tetralogy of Fallot, related diseases and genetic alterations	View info
Intellectual disability, severe and Thrombocytopenia, related diseases and genetic alterations	View info
Intellectual disability, severe and Triangular face, related diseases and genetic alterations	View info
Intellectual disability, severe and Type II diabetes mellitus, related diseases and genetic alterations	View info
Intellectual disability, severe and Ulcerative colitis, related diseases and genetic alterations	View info
Intellectual disability, severe and Umbilical hernia, related diseases and genetic alterations	View info
Intellectual disability, severe and Urinary incontinence, related diseases and genetic alterations	View info
Intellectual disability, severe and Ventriculomegaly, related diseases and genetic alterations	View info
Intellectual disability, severe and Vertigo, related diseases and genetic alterations	View info

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