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
Intellectual disability and Thick lower lip vermilion, related diseases and genetic alterations	View info
Intellectual disability and Tremor, related diseases and genetic alterations	View info
Intellectual disability and Underdeveloped nasal alae, related diseases and genetic alterations	View info
Intellectual disability and Ventriculomegaly, related diseases and genetic alterations	View info
Intellectual disability and Waddling gait, related diseases and genetic alterations	View info
Intellectual disability, severe and Abnormal blistering of the skin, related diseases and genetic alterations	View info
Intellectual disability, severe and Abnormality of skin pigmentation, related diseases and genetic alterations	View info
Intellectual disability, severe and Abnormality of the metaphysis, related diseases and genetic alterations	View info
Intellectual disability, severe and Aciduria, related diseases and genetic alterations	View info
Intellectual disability, severe and Acute leukemia, related diseases and genetic alterations	View info
Intellectual disability, severe and Agenesis of corpus callosum, related diseases and genetic alterations	View info
Intellectual disability, severe and Aggressive behavior, related diseases and genetic alterations	View info
Intellectual disability, severe and Aortic valve stenosis, related diseases and genetic alterations	View info
Intellectual disability, severe and Apraxia, related diseases and genetic alterations	View info
Intellectual disability, severe and Arachnodactyly, related diseases and genetic alterations	View info
Intellectual disability, severe and Arrhythmia, related diseases and genetic alterations	View info
Intellectual disability, severe and Ascites, related diseases and genetic alterations	View info
Intellectual disability, severe and Autism, related diseases and genetic alterations	View info
Intellectual disability, severe and Azoospermia, related diseases and genetic alterations	View info
Intellectual disability, severe and Bipolar affective disorder, related diseases and genetic alterations	View info

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