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 Hypodontia, related diseases and genetic alterations	View info
Intellectual disability, severe and Hypoglycemia, related diseases and genetic alterations	View info
Intellectual disability, severe and Hypopigmentation of the skin, related diseases and genetic alterations	View info
Intellectual disability, severe and Hypoplasia of penis, related diseases and genetic alterations	View info
Intellectual disability, severe and Hypospadias, related diseases and genetic alterations	View info
Intellectual disability, severe and Hypothyroidism, related diseases and genetic alterations	View info
Intellectual disability, severe and Ichthyosis, related diseases and genetic alterations	View info
Intellectual disability, severe and Insulin resistance, related diseases and genetic alterations	View info
Intellectual disability, severe and Intellectual disability, moderate, related diseases and genetic alterations	View info
Intellectual disability, severe and Interphalangeal joint contracture of finger, related diseases and genetic alterations	View info
Intellectual disability, severe and Intestinal malrotation, related diseases and genetic alterations	View info
Intellectual disability, severe and Ischemic stroke, related diseases and genetic alterations	View info
Intellectual disability, severe and Jaundice, related diseases and genetic alterations	View info
Intellectual disability, severe and Joint hyperflexibility, related diseases and genetic alterations	View info
Intellectual disability, severe and Joint hypermobility, related diseases and genetic alterations	View info
Intellectual disability, severe and Joint stiffness, related diseases and genetic alterations	View info
Intellectual disability, severe and Kyphoscoliosis, related diseases and genetic alterations	View info
Intellectual disability, severe and Kyphosis, related diseases and genetic alterations	View info
Intellectual disability, severe and Lactic acidosis, related diseases and genetic alterations	View info
Intellectual disability, severe and Left ventricular hypertrophy, related diseases and genetic alterations	View info

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