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 Blepharophimosis, related diseases and genetic alterations
Abnormal facial shape and Blue sclerae, related diseases and genetic alterations
Abnormal facial shape and Brachycephaly, related diseases and genetic alterations
Abnormal facial shape and Bradycardia, related diseases and genetic alterations
Abnormal facial shape and Bradykinesia, related diseases and genetic alterations
Abnormal facial shape and Brain atrophy, related diseases and genetic alterations
Abnormal facial shape and Breast carcinoma, related diseases and genetic alterations
Abnormal facial shape and Broad forehead, related diseases and genetic alterations
Abnormal facial shape and Bronchiectasis, related diseases and genetic alterations
Abnormal facial shape and Bruising susceptibility, related diseases and genetic alterations
Abnormal facial shape and Bulbous nose, related diseases and genetic alterations
Abnormal facial shape and Camptodactyly of finger, related diseases and genetic alterations
Abnormal facial shape and Cardiomyopathy, related diseases and genetic alterations
Abnormal facial shape and Cerebellar hypoplasia, related diseases and genetic alterations
Abnormal facial shape and Choanal atresia, related diseases and genetic alterations
Abnormal facial shape and Chorea, related diseases and genetic alterations
Abnormal facial shape and Cirrhosis, 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 Coloboma, related diseases and genetic alterations