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
Abnormality of the skeletal system and Oral cleft, related diseases and genetic alterations
Abnormality of the skeletal system and Pallor, related diseases and genetic alterations
Abnormality of the skeletal system and Pancytopenia, related diseases and genetic alterations
Abnormality of the skeletal system and Pectus carinatum, related diseases and genetic alterations
Abnormality of the skeletal system and Pectus excavatum, related diseases and genetic alterations
Abnormality of the skeletal system and Pes planus, related diseases and genetic alterations
Abnormality of the skeletal system and Platyspondyly, related diseases and genetic alterations
Abnormality of the skeletal system and Polycystic kidney dysplasia, related diseases and genetic alterations
Abnormality of the skeletal system and Postaxial hand polydactyly, related diseases and genetic alterations
Abnormality of the skeletal system and Primary amenorrhea, related diseases and genetic alterations
Abnormality of the skeletal system and Proptosis, related diseases and genetic alterations
Abnormality of the skeletal system and Respiratory distress, related diseases and genetic alterations
Abnormality of the skeletal system and Respiratory failure, related diseases and genetic alterations
Abnormality of the skeletal system and Retinal degeneration, related diseases and genetic alterations
Abnormality of the skeletal system and Schizophrenia, related diseases and genetic alterations
Abnormality of the skeletal system and Short foot, related diseases and genetic alterations
Abnormality of the skeletal system and Short metacarpal, related diseases and genetic alterations
Abnormality of the skeletal system and Situs inversus totalis, related diseases and genetic alterations
Abnormality of the skeletal system and Skin rash, related diseases and genetic alterations
Abnormality of the skeletal system and Spastic tetraplegia, related diseases and genetic alterations