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 Cerebral atrophy, related diseases and genetic alterations
Abnormal facial shape and Cerebral calcification, related diseases and genetic alterations
Abnormal facial shape and Cerebral cortical atrophy, related diseases and genetic alterations
Abnormal facial shape and Choanal atresia, related diseases and genetic alterations
Abnormal facial shape and Cholestasis, related diseases and genetic alterations
Abnormal facial shape and Chorea, related diseases and genetic alterations
Abnormal facial shape and Choreoathetosis, related diseases and genetic alterations
Abnormal facial shape and Chronic myelogenous leukemia, related diseases and genetic alterations
Abnormal facial shape and Cirrhosis, related diseases and genetic alterations
Abnormal facial shape and Cleft palate, related diseases and genetic alterations
Abnormal facial shape and Cleft upper lip, related diseases and genetic alterations
Abnormal facial shape and Clinodactyly of the 5th finger, related diseases and genetic alterations
Abnormal facial shape and Clinodactyly, related diseases and genetic alterations
Abnormal facial shape and Coarctation of aorta, related diseases and genetic alterations
Abnormal facial shape and Coarse facial features, related diseases and genetic alterations
Abnormal facial shape and Cognitive impairment, related diseases and genetic alterations
Abnormal facial shape and Colitis, related diseases and genetic alterations
Abnormal facial shape and Coloboma, related diseases and genetic alterations
Abnormal facial shape and Colon cancer, related diseases and genetic alterations
Abnormal facial shape and Coma, related diseases and genetic alterations