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 Peripheral demyelination, related diseases and genetic alterations	View info
Low-set ears and Pes cavus, related diseases and genetic alterations	View info
Low-set ears and Pes planus, related diseases and genetic alterations	View info
Low-set ears and Polydactyly, related diseases and genetic alterations	View info
Low-set ears and Polyhydramnios, related diseases and genetic alterations	View info
Low-set ears and Polymicrogyria, related diseases and genetic alterations	View info
Low-set ears and Poor speech, related diseases and genetic alterations	View info
Low-set ears and Posteriorly rotated ears, related diseases and genetic alterations	View info
Low-set ears and Prominent nasal bridge, related diseases and genetic alterations	View info
Low-set ears and Proptosis, related diseases and genetic alterations	View info
Low-set ears and Proteinuria, related diseases and genetic alterations	View info
Low-set ears and Protruding ear, related diseases and genetic alterations	View info
Low-set ears and Psychosis, related diseases and genetic alterations	View info
Low-set ears and Pulmonary hypoplasia, related diseases and genetic alterations	View info
Low-set ears and Renal dysplasia, related diseases and genetic alterations	View info
Low-set ears and Retrognathia, related diseases and genetic alterations	View info
Low-set ears and Rheumatoid arthritis, related diseases and genetic alterations	View info
Low-set ears and Schizophrenia, related diseases and genetic alterations	View info
Low-set ears and Sensory impairment, related diseases and genetic alterations	View info
Low-set ears and Severe short stature, related diseases and genetic alterations	View info

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