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 Lumbar hyperlordosis, related diseases and genetic alterations View info
Abnormal facial shape and Lymphoma, related diseases and genetic alterations View info
Abnormal facial shape and Malabsorption, related diseases and genetic alterations View info
Abnormal facial shape and Migraine, related diseases and genetic alterations View info
Abnormal facial shape and Muscular dystrophy, related diseases and genetic alterations View info
Abnormal facial shape and Nail dysplasia, related diseases and genetic alterations View info
Abnormal facial shape and Narrow forehead, related diseases and genetic alterations View info
Abnormal facial shape and Nephrolithiasis, related diseases and genetic alterations View info
Abnormal facial shape and Nephrotic syndrome, related diseases and genetic alterations View info
Abnormal facial shape and Oligohydramnios, related diseases and genetic alterations View info
Abnormal facial shape and Open mouth, related diseases and genetic alterations View info
Abnormal facial shape and Osteosarcoma, related diseases and genetic alterations View info
Abnormal facial shape and Otitis media, related diseases and genetic alterations View info
Abnormal facial shape and Pallor, related diseases and genetic alterations View info
Abnormal facial shape and Papule, related diseases and genetic alterations View info
Abnormal facial shape and Pectus carinatum, related diseases and genetic alterations View info
Abnormal facial shape and Peripheral demyelination, related diseases and genetic alterations View info
Abnormal facial shape and Pneumonia, related diseases and genetic alterations View info
Abnormal facial shape and Polymicrogyria, related diseases and genetic alterations View info
Abnormal facial shape and Prominent nose, related diseases and genetic alterations View info