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 Gliosis, related diseases and genetic alterations
Abnormality of the skeletal system and Hepatic failure, related diseases and genetic alterations
Abnormality of the skeletal system and Hepatic steatosis, related diseases and genetic alterations
Abnormality of the skeletal system and Hodgkin lymphoma, related diseases and genetic alterations
Abnormality of the skeletal system and Hyperhidrosis, related diseases and genetic alterations
Abnormality of the skeletal system and Hypertonia, related diseases and genetic alterations
Abnormality of the skeletal system and Hypertriglyceridemia, related diseases and genetic alterations
Abnormality of the skeletal system and Hypothyroidism, related diseases and genetic alterations
Abnormality of the skeletal system and Iris coloboma, related diseases and genetic alterations
Abnormality of the skeletal system and Irritability, related diseases and genetic alterations
Abnormality of the skeletal system and Lethargy, related diseases and genetic alterations
Abnormality of the skeletal system and Limb undergrowth, related diseases and genetic alterations
Abnormality of the skeletal system and Long face, related diseases and genetic alterations
Abnormality of the skeletal system and Lymphedema, related diseases and genetic alterations
Abnormality of the skeletal system and Malabsorption, related diseases and genetic alterations
Abnormality of the skeletal system and Micropenis, related diseases and genetic alterations
Abnormality of the skeletal system and Nail dystrophy, related diseases and genetic alterations
Abnormality of the skeletal system and Narrow mouth, related diseases and genetic alterations
Abnormality of the skeletal system and Neurological speech impairment, related diseases and genetic alterations
Abnormality of the skeletal system and Omphalocele, related diseases and genetic alterations