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.

Rare Disease Signs and Symptoms by name

Name
Frontal bossing and Broad forehead, related diseases and genetic alterations View info
Frontal bossing and Bruising susceptibility, related diseases and genetic alterations View info
Frontal bossing and Camptodactyly of finger, related diseases and genetic alterations View info
Frontal bossing and Carious teeth, related diseases and genetic alterations View info
Frontal bossing and Cerebral cortical atrophy, related diseases and genetic alterations View info
Frontal bossing and Chronic myelogenous leukemia, related diseases and genetic alterations View info
Frontal bossing and Clinodactyly of the 5th finger, related diseases and genetic alterations View info
Frontal bossing and Clinodactyly, related diseases and genetic alterations View info
Frontal bossing and Colitis, related diseases and genetic alterations View info
Frontal bossing and Coloboma, related diseases and genetic alterations View info
Frontal bossing and Cone/cone-rod dystrophy, related diseases and genetic alterations View info
Frontal bossing and Congenital cataract, related diseases and genetic alterations View info
Frontal bossing and Constipation, related diseases and genetic alterations View info
Frontal bossing and Corneal opacity, related diseases and genetic alterations View info
Frontal bossing and Craniosynostosis, related diseases and genetic alterations View info
Frontal bossing and Decreased antibody level in blood, related diseases and genetic alterations View info
Frontal bossing and Deeply set eye, related diseases and genetic alterations View info
Frontal bossing and Delayed puberty, related diseases and genetic alterations View info
Frontal bossing and Developmental regression, related diseases and genetic alterations View info
Frontal bossing and Diabetes mellitus, related diseases and genetic alterations View info