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 Elevated serum creatine phosphokinase, related diseases and genetic alterations
Abnormal facial shape and Encephalitis, related diseases and genetic alterations
Abnormal facial shape and Encephalocele, related diseases and genetic alterations
Abnormal facial shape and Encephalopathy, related diseases and genetic alterations
Abnormal facial shape and Eosinophilia, related diseases and genetic alterations
Abnormal facial shape and Epicanthus, related diseases and genetic alterations
Abnormal facial shape and Epidermal acanthosis, related diseases and genetic alterations
Abnormal facial shape and Epileptic encephalopathy, related diseases and genetic alterations
Abnormal facial shape and Epistaxis, related diseases and genetic alterations
Abnormal facial shape and Erythema, related diseases and genetic alterations
Abnormal facial shape and Esotropia, related diseases and genetic alterations
Abnormal facial shape and Everted lower lip vermilion, related diseases and genetic alterations
Abnormal facial shape and Facial asymmetry, related diseases and genetic alterations
Abnormal facial shape and Facial palsy, related diseases and genetic alterations
Abnormal facial shape and Failure to thrive, related diseases and genetic alterations
Abnormal facial shape and Falls, related diseases and genetic alterations
Abnormal facial shape and Fatigue, related diseases and genetic alterations
Abnormal facial shape and Febrile seizures, related diseases and genetic alterations
Abnormal facial shape and Feeding difficulties in infancy, related diseases and genetic alterations
Abnormal facial shape and Feeding difficulties, related diseases and genetic alterations