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 Brachycephaly, related diseases and genetic alterations
Abnormality of the skeletal system and Broad nasal tip, related diseases and genetic alterations
Abnormality of the skeletal system and Bulbous nose, related diseases and genetic alterations
Abnormality of the skeletal system and Clinodactyly of the 5th finger, related diseases and genetic alterations
Abnormality of the skeletal system and Confusion, related diseases and genetic alterations
Abnormality of the skeletal system and Congenital cataract, related diseases and genetic alterations
Abnormality of the skeletal system and Coronary artery atherosclerosis, related diseases and genetic alterations
Abnormality of the skeletal system and Delayed eruption of teeth, related diseases and genetic alterations
Abnormality of the skeletal system and Delayed puberty, related diseases and genetic alterations
Abnormality of the skeletal system and Depressivity, related diseases and genetic alterations
Abnormality of the skeletal system and Dolichocephaly, related diseases and genetic alterations
Abnormality of the skeletal system and Dyskinesia, related diseases and genetic alterations
Abnormality of the skeletal system and Dyspnea, related diseases and genetic alterations
Abnormality of the skeletal system and Dystonia, related diseases and genetic alterations
Abnormality of the skeletal system and Elevated hepatic transaminase, related diseases and genetic alterations
Abnormality of the skeletal system and Encephalocele, related diseases and genetic alterations
Abnormality of the skeletal system and Epidermal acanthosis, related diseases and genetic alterations
Abnormality of the skeletal system and Falls, related diseases and genetic alterations
Abnormality of the skeletal system and Flat face, related diseases and genetic alterations
Abnormality of the skeletal system and Full cheeks, related diseases and genetic alterations