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 High myopia, related diseases and genetic alterations
Abnormal facial shape and High palate, related diseases and genetic alterations
Abnormal facial shape and Highly arched eyebrow, related diseases and genetic alterations
Abnormal facial shape and Hip dislocation, related diseases and genetic alterations
Abnormal facial shape and Hirsutism, related diseases and genetic alterations
Abnormal facial shape and Hyperhidrosis, related diseases and genetic alterations
Abnormal facial shape and Hyperlordosis, related diseases and genetic alterations
Abnormal facial shape and Hypertension, related diseases and genetic alterations
Abnormal facial shape and Hypogonadism, related diseases and genetic alterations
Abnormal facial shape and Hypospadias, related diseases and genetic alterations
Abnormal facial shape and Hypotension, related diseases and genetic alterations
Abnormal facial shape and Insulin resistance, related diseases and genetic alterations
Abnormal facial shape and Jaundice, related diseases and genetic alterations
Abnormal facial shape and Joint hypermobility, related diseases and genetic alterations
Abnormal facial shape and Kyphosis, related diseases and genetic alterations
Abnormal facial shape and Left ventricular hypertrophy, related diseases and genetic alterations
Abnormal facial shape and Long face, related diseases and genetic alterations
Abnormal facial shape and Long philtrum, related diseases and genetic alterations
Abnormal facial shape and Low-set ears, related diseases and genetic alterations
Abnormal facial shape and Lumbar hyperlordosis, related diseases and genetic alterations