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.


Signs and Symptoms by name

Name
Abnormal facial shape and Fever, related diseases and genetic alterations
Abnormal facial shape and Finger syndactyly, related diseases and genetic alterations
Abnormal facial shape and Flat face, related diseases and genetic alterations
Abnormal facial shape and Flexion contracture, related diseases and genetic alterations
Abnormal facial shape and Focal seizures, related diseases and genetic alterations
Abnormal facial shape and Frontal bossing, related diseases and genetic alterations
Abnormal facial shape and Full cheeks, related diseases and genetic alterations
Abnormal facial shape and Gait ataxia, related diseases and genetic alterations
Abnormal facial shape and Gait disturbance, related diseases and genetic alterations
Abnormal facial shape and Gastroesophageal reflux, related diseases and genetic alterations
Abnormal facial shape and Gastrointestinal hemorrhage, related diseases and genetic alterations
Abnormal facial shape and Generalized muscle weakness, related diseases and genetic alterations
Abnormal facial shape and Generalized myoclonic seizures, related diseases and genetic alterations
Abnormal facial shape and Generalized seizures, related diseases and genetic alterations
Abnormal facial shape and Generalized tonic-clonic seizures, related diseases and genetic alterations
Abnormal facial shape and Genu valgum, related diseases and genetic alterations
Abnormal facial shape and Glaucoma, related diseases and genetic alterations
Abnormal facial shape and Glioma, related diseases and genetic alterations
Abnormal facial shape and Gliosis, related diseases and genetic alterations
Abnormal facial shape and Glomerulonephritis, related diseases and genetic alterations