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 Open mouth, related diseases and genetic alterations	View info
Intellectual disability, severe and Ophthalmoplegia, related diseases and genetic alterations	View info
Intellectual disability, severe and Osteoarthritis, related diseases and genetic alterations	View info
Intellectual disability, severe and Osteoporosis, related diseases and genetic alterations	View info
Intellectual disability, severe and Osteosarcoma, related diseases and genetic alterations	View info
Intellectual disability, severe and Palmoplantar keratoderma, related diseases and genetic alterations	View info
Intellectual disability, severe and Pancreatitis, related diseases and genetic alterations	View info
Intellectual disability, severe and Pancytopenia, related diseases and genetic alterations	View info
Intellectual disability, severe and Parkinsonism, related diseases and genetic alterations	View info
Intellectual disability, severe and Patent ductus arteriosus, related diseases and genetic alterations	View info
Intellectual disability, severe and Pectus excavatum, related diseases and genetic alterations	View info
Intellectual disability, severe and Pes planus, related diseases and genetic alterations	View info
Intellectual disability, severe and Photophobia, related diseases and genetic alterations	View info
Intellectual disability, severe and Platyspondyly, related diseases and genetic alterations	View info
Intellectual disability, severe and Pneumonia, related diseases and genetic alterations	View info
Intellectual disability, severe and Polymicrogyria, related diseases and genetic alterations	View info
Intellectual disability, severe and Primary amenorrhea, related diseases and genetic alterations	View info
Intellectual disability, severe and Proptosis, related diseases and genetic alterations	View info
Intellectual disability, severe and Protruding ear, related diseases and genetic alterations	View info
Intellectual disability, severe and Recurrent infections, related diseases and genetic alterations	View info

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