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 Dental crowding, related diseases and genetic alterations	View info
Intellectual disability, severe and Dental malocclusion, related diseases and genetic alterations	View info
Intellectual disability, severe and Depressivity, related diseases and genetic alterations	View info
Intellectual disability, severe and Developmental regression, related diseases and genetic alterations	View info
Intellectual disability, severe and Diarrhea, related diseases and genetic alterations	View info
Intellectual disability, severe and Distal amyotrophy, related diseases and genetic alterations	View info
Intellectual disability, severe and Dyskinesia, related diseases and genetic alterations	View info
Intellectual disability, severe and Dysmetria, related diseases and genetic alterations	View info
Intellectual disability, severe and Dystonia, related diseases and genetic alterations	View info
Intellectual disability, severe and Ectodermal dysplasia, related diseases and genetic alterations	View info
Intellectual disability, severe and Eczema, related diseases and genetic alterations	View info
Intellectual disability, severe and EEG abnormality, related diseases and genetic alterations	View info
Intellectual disability, severe and Encephalocele, related diseases and genetic alterations	View info
Intellectual disability, severe and Encephalopathy, related diseases and genetic alterations	View info
Intellectual disability, severe and Esotropia, related diseases and genetic alterations	View info
Intellectual disability, severe and Facial asymmetry, related diseases and genetic alterations	View info
Intellectual disability, severe and Feeding difficulties in infancy, related diseases and genetic alterations	View info
Intellectual disability, severe and Finger syndactyly, related diseases and genetic alterations	View info
Intellectual disability, severe and Flat face, related diseases and genetic alterations	View info
Intellectual disability, severe and Focal seizures, related diseases and genetic alterations	View info

311 of 625