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 Congenital muscular dystrophy, related diseases and genetic alterations	View info
Hearing impairment and Congestive heart failure, related diseases and genetic alterations	View info
Hearing impairment and Constipation, related diseases and genetic alterations	View info
Hearing impairment and Corneal opacity, related diseases and genetic alterations	View info
Hearing impairment and Cryptorchidism, related diseases and genetic alterations	View info
Hearing impairment and Decreased antibody level in blood, related diseases and genetic alterations	View info
Hearing impairment and Dehydration, related diseases and genetic alterations	View info
Hearing impairment and Delayed myelination, related diseases and genetic alterations	View info
Hearing impairment and Dementia, related diseases and genetic alterations	View info
Hearing impairment and Depressed nasal bridge, related diseases and genetic alterations	View info
Hearing impairment and Dilated cardiomyopathy, related diseases and genetic alterations	View info
Hearing impairment and Distal muscle weakness, related diseases and genetic alterations	View info
Hearing impairment and Dolichocephaly, related diseases and genetic alterations	View info
Hearing impairment and Encephalocele, related diseases and genetic alterations	View info
Hearing impairment and Epistaxis, related diseases and genetic alterations	View info
Hearing impairment and Erythema, related diseases and genetic alterations	View info
Hearing impairment and Esotropia, related diseases and genetic alterations	View info
Hearing impairment and Feeding difficulties in infancy, related diseases and genetic alterations	View info
Hearing impairment and Generalized myoclonic seizures, related diseases and genetic alterations	View info
Hearing impairment and Gliosis, related diseases and genetic alterations	View info

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