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
Hearing impairment and Aortic valve stenosis, related diseases and genetic alterations	View info
Hearing impairment and Arachnodactyly, related diseases and genetic alterations	View info
Hearing impairment and Arthrogryposis multiplex congenita, related diseases and genetic alterations	View info
Hearing impairment and Atrial fibrillation, related diseases and genetic alterations	View info
Hearing impairment and Atrial septal defect, related diseases and genetic alterations	View info
Hearing impairment and Azoospermia, related diseases and genetic alterations	View info
Hearing impairment and Bifid uvula, related diseases and genetic alterations	View info
Hearing impairment and Blue sclerae, related diseases and genetic alterations	View info
Hearing impairment and Bone marrow hypocellularity, related diseases and genetic alterations	View info
Hearing impairment and Cardiomyopathy, related diseases and genetic alterations	View info
Hearing impairment and Cerebellar hypoplasia, related diseases and genetic alterations	View info
Hearing impairment and Choanal atresia, related diseases and genetic alterations	View info
Hearing impairment and Cirrhosis, related diseases and genetic alterations	View info
Hearing impairment and Clinodactyly of the 5th finger, related diseases and genetic alterations	View info
Hearing impairment and Coarctation of aorta, related diseases and genetic alterations	View info
Hearing impairment and Coloboma, related diseases and genetic alterations	View info
Hearing impairment and Colon cancer, related diseases and genetic alterations	View info
Hearing impairment and Confusion, related diseases and genetic alterations	View info
Hearing impairment and Congenital cataract, related diseases and genetic alterations	View info
Hearing impairment and Congenital diaphragmatic hernia, related diseases and genetic alterations	View info

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