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 Psoriasiform dermatitis, related diseases and genetic alterations View info
Abnormal facial shape and Pulmonic stenosis, related diseases and genetic alterations View info
Abnormal facial shape and Recurrent respiratory infections, related diseases and genetic alterations View info
Abnormal facial shape and Recurrent urinary tract infections, related diseases and genetic alterations View info
Abnormal facial shape and Sarcoma, related diseases and genetic alterations View info
Abnormal facial shape and Scarring, related diseases and genetic alterations View info
Abnormal facial shape and Schizophrenia, related diseases and genetic alterations View info
Abnormal facial shape and Sensory impairment, related diseases and genetic alterations View info
Abnormal facial shape and Severe global developmental delay, related diseases and genetic alterations View info
Abnormal facial shape and Short foot, related diseases and genetic alterations View info
Abnormal facial shape and Short nose, related diseases and genetic alterations View info
Abnormal facial shape and Short palm, related diseases and genetic alterations View info
Abnormal facial shape and Single transverse palmar crease, related diseases and genetic alterations View info
Abnormal facial shape and Sparse scalp hair, related diseases and genetic alterations View info
Abnormal facial shape and Spina bifida, related diseases and genetic alterations View info
Abnormal facial shape and Stomach cancer, related diseases and genetic alterations View info
Abnormal facial shape and Subcutaneous nodule, related diseases and genetic alterations View info
Abnormal facial shape and Syncope, related diseases and genetic alterations View info
Abnormal facial shape and Syndactyly, related diseases and genetic alterations View info
Abnormal facial shape and Tapered finger, related diseases and genetic alterations View info