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 Hyperreflexia, related diseases and genetic alterations	View info
Low-set ears and Hypertonia, related diseases and genetic alterations	View info
Low-set ears and Hypodontia, related diseases and genetic alterations	View info
Low-set ears and Hypoglycemia, related diseases and genetic alterations	View info
Low-set ears and Hypogonadism, related diseases and genetic alterations	View info
Low-set ears and Hypospadias, related diseases and genetic alterations	View info
Low-set ears and Hypothyroidism, related diseases and genetic alterations	View info
Low-set ears and Hypotrichosis, related diseases and genetic alterations	View info
Low-set ears and Ichthyosis, related diseases and genetic alterations	View info
Low-set ears and Infertility, related diseases and genetic alterations	View info
Low-set ears and Insulin resistance, related diseases and genetic alterations	View info
Low-set ears and Intellectual disability, mild, related diseases and genetic alterations	View info
Low-set ears and Intellectual disability, moderate, related diseases and genetic alterations	View info
Low-set ears and Intellectual disability, profound, related diseases and genetic alterations	View info
Low-set ears and Intestinal malrotation, related diseases and genetic alterations	View info
Low-set ears and Intrauterine growth retardation, related diseases and genetic alterations	View info
Low-set ears and Iris coloboma, related diseases and genetic alterations	View info
Low-set ears and Joint hypermobility, related diseases and genetic alterations	View info
Low-set ears and Kyphoscoliosis, related diseases and genetic alterations	View info
Low-set ears and Kyphosis, related diseases and genetic alterations	View info

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