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
Low-set ears and Dehydration, related diseases and genetic alterations	View info
Low-set ears and Delayed speech and language development, related diseases and genetic alterations	View info
Low-set ears and Dementia, related diseases and genetic alterations	View info
Low-set ears and Dental malocclusion, related diseases and genetic alterations	View info
Low-set ears and Depressed nasal bridge, related diseases and genetic alterations	View info
Low-set ears and Depressed nasal ridge, related diseases and genetic alterations	View info
Low-set ears and Dilatation, related diseases and genetic alterations	View info
Low-set ears and Dilated cardiomyopathy, related diseases and genetic alterations	View info
Low-set ears and Dolichocephaly, related diseases and genetic alterations	View info
Low-set ears and Downslanted palpebral fissures, related diseases and genetic alterations	View info
Low-set ears and Downturned corners of mouth, related diseases and genetic alterations	View info
Low-set ears and Dysarthria, related diseases and genetic alterations	View info
Low-set ears and Dyspnea, related diseases and genetic alterations	View info
Low-set ears and Ectodermal dysplasia, related diseases and genetic alterations	View info
Low-set ears and Eczema, related diseases and genetic alterations	View info
Low-set ears and Encephalopathy, related diseases and genetic alterations	View info
Low-set ears and Esotropia, related diseases and genetic alterations	View info
Low-set ears and Feeding difficulties in infancy, related diseases and genetic alterations	View info
Low-set ears and Finger syndactyly, related diseases and genetic alterations	View info
Low-set ears and Flat face, related diseases and genetic alterations	View info

332 of 625