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 Recurrent respiratory infections, related diseases and genetic alterations	View info
Intellectual disability, severe and Reduced visual acuity, related diseases and genetic alterations	View info
Intellectual disability, severe and Renal agenesis, related diseases and genetic alterations	View info
Intellectual disability, severe and Renal hypoplasia, related diseases and genetic alterations	View info
Intellectual disability, severe and Renal insufficiency, related diseases and genetic alterations	View info
Intellectual disability, severe and Retinal detachment, related diseases and genetic alterations	View info
Intellectual disability, severe and Retinal dystrophy, related diseases and genetic alterations	View info
Intellectual disability, severe and Retrognathia, related diseases and genetic alterations	View info
Intellectual disability, severe and Rigidity, related diseases and genetic alterations	View info
Intellectual disability, severe and Rod-cone dystrophy, related diseases and genetic alterations	View info
Intellectual disability, severe and Round face, related diseases and genetic alterations	View info
Intellectual disability, severe and Scarring, related diseases and genetic alterations	View info
Intellectual disability, severe and Schizophrenia, related diseases and genetic alterations	View info
Intellectual disability, severe and Short neck, related diseases and genetic alterations	View info
Intellectual disability, severe and Short palm, related diseases and genetic alterations	View info
Intellectual disability, severe and Short palpebral fissure, related diseases and genetic alterations	View info
Intellectual disability, severe and Short phalanx of finger, related diseases and genetic alterations	View info
Intellectual disability, severe and Sinusitis, related diseases and genetic alterations	View info
Intellectual disability, severe and Situs inversus totalis, related diseases and genetic alterations	View info
Intellectual disability, severe and Skeletal dysplasia, related diseases and genetic alterations	View info

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