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 Sensory impairment, related diseases and genetic alterations
Abnormal facial shape and Severe global developmental delay, related diseases and genetic alterations
Abnormal facial shape and Short foot, related diseases and genetic alterations
Abnormal facial shape and Short nose, related diseases and genetic alterations
Abnormal facial shape and Single transverse palmar crease, related diseases and genetic alterations
Abnormal facial shape and Sparse scalp hair, related diseases and genetic alterations
Abnormal facial shape and Spina bifida, related diseases and genetic alterations
Abnormal facial shape and Stomach cancer, related diseases and genetic alterations
Abnormal facial shape and Subcutaneous nodule, related diseases and genetic alterations
Abnormal facial shape and Syncope, related diseases and genetic alterations
Abnormal facial shape and Syndactyly, related diseases and genetic alterations
Abnormal facial shape and Tapered finger, related diseases and genetic alterations
Abnormal facial shape and Telangiectasia, related diseases and genetic alterations
Abnormal facial shape and Tetralogy of Fallot, related diseases and genetic alterations
Abnormal facial shape and Tetraparesis, related diseases and genetic alterations
Abnormal facial shape and Triangular face, related diseases and genetic alterations
Abnormal facial shape and Type I diabetes mellitus, related diseases and genetic alterations
Abnormal facial shape and Umbilical hernia, related diseases and genetic alterations
Abnormal facial shape and Underdeveloped nasal alae, related diseases and genetic alterations
Abnormal facial shape and Vertigo, related diseases and genetic alterations