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 Hypertriglyceridemia, related diseases and genetic alterations View info
Abnormality of the skeletal system and Hypotension, related diseases and genetic alterations View info
Abnormality of the skeletal system and Hypothyroidism, related diseases and genetic alterations View info
Abnormality of the skeletal system and Iris coloboma, related diseases and genetic alterations View info
Abnormality of the skeletal system and Irritability, related diseases and genetic alterations View info
Abnormality of the skeletal system and Ischemic stroke, related diseases and genetic alterations View info
Abnormality of the skeletal system and Lethargy, related diseases and genetic alterations View info
Abnormality of the skeletal system and Limb undergrowth, related diseases and genetic alterations View info
Abnormality of the skeletal system and Long face, related diseases and genetic alterations View info
Abnormality of the skeletal system and Lymphedema, related diseases and genetic alterations View info
Abnormality of the skeletal system and Malabsorption, related diseases and genetic alterations View info
Abnormality of the skeletal system and Micropenis, related diseases and genetic alterations View info
Abnormality of the skeletal system and Nail dystrophy, related diseases and genetic alterations View info
Abnormality of the skeletal system and Narrow mouth, related diseases and genetic alterations View info
Abnormality of the skeletal system and Neurological speech impairment, related diseases and genetic alterations View info
Abnormality of the skeletal system and Omphalocele, related diseases and genetic alterations View info
Abnormality of the skeletal system and Oral cleft, related diseases and genetic alterations View info
Abnormality of the skeletal system and Pallor, related diseases and genetic alterations View info
Abnormality of the skeletal system and Pancytopenia, related diseases and genetic alterations View info
Abnormality of the skeletal system and Pectus carinatum, related diseases and genetic alterations View info