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 Blindness, related diseases and genetic alterations	View info
Intellectual disability, severe and Brachycephaly, related diseases and genetic alterations	View info
Intellectual disability, severe and Bradykinesia, related diseases and genetic alterations	View info
Intellectual disability, severe and Brain atrophy, related diseases and genetic alterations	View info
Intellectual disability, severe and Bulbous nose, related diseases and genetic alterations	View info
Intellectual disability, severe and Camptodactyly, related diseases and genetic alterations	View info
Intellectual disability, severe and Carious teeth, related diseases and genetic alterations	View info
Intellectual disability, severe and Cerebellar hypoplasia, related diseases and genetic alterations	View info
Intellectual disability, severe and Cerebellar vermis hypoplasia, related diseases and genetic alterations	View info
Intellectual disability, severe and Cholestasis, related diseases and genetic alterations	View info
Intellectual disability, severe and Cirrhosis, related diseases and genetic alterations	View info
Intellectual disability, severe and Clinodactyly of the 5th finger, related diseases and genetic alterations	View info
Intellectual disability, severe and Coarse facial features, related diseases and genetic alterations	View info
Intellectual disability, severe and Colitis, related diseases and genetic alterations	View info
Intellectual disability, severe and Combined immunodeficiency, related diseases and genetic alterations	View info
Intellectual disability, severe and Craniosynostosis, related diseases and genetic alterations	View info
Intellectual disability, severe and Dandy-Walker malformation, related diseases and genetic alterations	View info
Intellectual disability, severe and Decreased fetal movement, related diseases and genetic alterations	View info
Intellectual disability, severe and Deeply set eye, related diseases and genetic alterations	View info
Intellectual disability, severe and Delayed myelination, related diseases and genetic alterations	View info

310 of 625