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 Decreased body weight, related diseases and genetic alterations
Abnormal facial shape and Decreased fetal movement, related diseases and genetic alterations
Abnormal facial shape and Decreased testicular size, related diseases and genetic alterations
Abnormal facial shape and Deeply set eye, related diseases and genetic alterations
Abnormal facial shape and Dehydration, related diseases and genetic alterations
Abnormal facial shape and Delayed eruption of teeth, related diseases and genetic alterations
Abnormal facial shape and Delayed myelination, related diseases and genetic alterations
Abnormal facial shape and Delayed puberty, related diseases and genetic alterations
Abnormal facial shape and Delayed skeletal maturation, related diseases and genetic alterations
Abnormal facial shape and Delayed speech and language development, related diseases and genetic alterations
Abnormal facial shape and Dementia, related diseases and genetic alterations
Abnormal facial shape and Dental crowding, related diseases and genetic alterations
Abnormal facial shape and Dental malocclusion, related diseases and genetic alterations
Abnormal facial shape and Depressed nasal bridge, related diseases and genetic alterations
Abnormal facial shape and Depressed nasal ridge, related diseases and genetic alterations
Abnormal facial shape and Depressivity, related diseases and genetic alterations
Abnormal facial shape and Developmental regression, related diseases and genetic alterations
Abnormal facial shape and Diabetes mellitus, related diseases and genetic alterations
Abnormal facial shape and Diarrhea, related diseases and genetic alterations
Abnormal facial shape and Difficulty walking, related diseases and genetic alterations