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 Renal hypoplasia, related diseases and genetic alterations	View info
Hearing impairment and Retinal degeneration, related diseases and genetic alterations	View info
Hearing impairment and Retinal detachment, related diseases and genetic alterations	View info
Hearing impairment and Retinal dystrophy, related diseases and genetic alterations	View info
Hearing impairment and Scoliosis, related diseases and genetic alterations	View info
Hearing impairment and Severe short stature, related diseases and genetic alterations	View info
Hearing impairment and Short metacarpal, related diseases and genetic alterations	View info
Hearing impairment and Short neck, related diseases and genetic alterations	View info
Hearing impairment and Situs inversus totalis, related diseases and genetic alterations	View info
Hearing impairment and Skeletal muscle atrophy, related diseases and genetic alterations	View info
Hearing impairment and Skin rash, related diseases and genetic alterations	View info
Hearing impairment and Smooth philtrum, related diseases and genetic alterations	View info
Hearing impairment and Spasticity, related diseases and genetic alterations	View info
Hearing impairment and Spinal muscular atrophy, related diseases and genetic alterations	View info
Hearing impairment and Stage 5 chronic kidney disease, related diseases and genetic alterations	View info
Hearing impairment and Subcutaneous nodule, related diseases and genetic alterations	View info
Hearing impairment and Sudden cardiac death, related diseases and genetic alterations	View info
Hearing impairment and Syncope, related diseases and genetic alterations	View info
Hearing impairment and Talipes equinovarus, related diseases and genetic alterations	View info
Hearing impairment and Talipes, related diseases and genetic alterations	View info

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