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 Combined immunodeficiency, related diseases and genetic alterations
Abnormal facial shape and Conductive hearing impairment, related diseases and genetic alterations
Abnormal facial shape and Cone/cone-rod dystrophy, related diseases and genetic alterations
Abnormal facial shape and Confusion, related diseases and genetic alterations
Abnormal facial shape and Congenital cataract, related diseases and genetic alterations
Abnormal facial shape and Congenital diaphragmatic hernia, related diseases and genetic alterations
Abnormal facial shape and Congenital muscular dystrophy, related diseases and genetic alterations
Abnormal facial shape and Congestive heart failure, related diseases and genetic alterations
Abnormal facial shape and Constipation, related diseases and genetic alterations
Abnormal facial shape and Convex nasal ridge, related diseases and genetic alterations
Abnormal facial shape and Corneal dystrophy, related diseases and genetic alterations
Abnormal facial shape and Corneal opacity, related diseases and genetic alterations
Abnormal facial shape and Coronary artery atherosclerosis, related diseases and genetic alterations
Abnormal facial shape and Cough, related diseases and genetic alterations
Abnormal facial shape and Craniosynostosis, related diseases and genetic alterations
Abnormal facial shape and Cryptorchidism, related diseases and genetic alterations
Abnormal facial shape and Cutaneous photosensitivity, related diseases and genetic alterations
Abnormal facial shape and Cyanosis, related diseases and genetic alterations
Abnormal facial shape and Dandy-Walker malformation, related diseases and genetic alterations
Abnormal facial shape and Decreased antibody level in blood, related diseases and genetic alterations