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 and Retinal dystrophy, related diseases and genetic alterations	View info
Intellectual disability and Retrognathia, related diseases and genetic alterations	View info
Intellectual disability and Rigidity, related diseases and genetic alterations	View info
Intellectual disability and Scoliosis, related diseases and genetic alterations	View info
Intellectual disability and Short distal phalanx of finger, related diseases and genetic alterations	View info
Intellectual disability and Short palm, related diseases and genetic alterations	View info
Intellectual disability and Short phalanx of finger, related diseases and genetic alterations	View info
Intellectual disability and Skin rash, related diseases and genetic alterations	View info
Intellectual disability and Sloping forehead, related diseases and genetic alterations	View info
Intellectual disability and Small hand, related diseases and genetic alterations	View info
Intellectual disability and Smooth philtrum, related diseases and genetic alterations	View info
Intellectual disability and Sparse hair, related diseases and genetic alterations	View info
Intellectual disability and Spastic paraplegia, related diseases and genetic alterations	View info
Intellectual disability and Spastic tetraplegia, related diseases and genetic alterations	View info
Intellectual disability and Spina bifida, related diseases and genetic alterations	View info
Intellectual disability and Stereotypy, related diseases and genetic alterations	View info
Intellectual disability and Stroke, related diseases and genetic alterations	View info
Intellectual disability and Syndactyly, related diseases and genetic alterations	View info
Intellectual disability and Talipes equinovarus, related diseases and genetic alterations	View info
Intellectual disability and Tapered finger, related diseases and genetic alterations	View info

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