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 Bradycardia, related diseases and genetic alterations	View info
Intellectual disability and Broad forehead, related diseases and genetic alterations	View info
Intellectual disability and Bulbous nose, related diseases and genetic alterations	View info
Intellectual disability and Carcinoma, related diseases and genetic alterations	View info
Intellectual disability and Cerebellar hypoplasia, related diseases and genetic alterations	View info
Intellectual disability and Cerebral calcification, related diseases and genetic alterations	View info
Intellectual disability and Chorea, related diseases and genetic alterations	View info
Intellectual disability and Cleft palate, related diseases and genetic alterations	View info
Intellectual disability and Cleft upper lip, related diseases and genetic alterations	View info
Intellectual disability and Clinodactyly of the 5th finger, related diseases and genetic alterations	View info
Intellectual disability and Coarctation of aorta, related diseases and genetic alterations	View info
Intellectual disability and Coloboma, related diseases and genetic alterations	View info
Intellectual disability and Craniosynostosis, related diseases and genetic alterations	View info
Intellectual disability and Cryptorchidism, related diseases and genetic alterations	View info
Intellectual disability and Dementia, related diseases and genetic alterations	View info
Intellectual disability and Depressivity, related diseases and genetic alterations	View info
Intellectual disability and Developmental regression, related diseases and genetic alterations	View info
Intellectual disability and Difficulty walking, related diseases and genetic alterations	View info
Intellectual disability and Dilatation, related diseases and genetic alterations	View info
Intellectual disability and Distal sensory impairment, related diseases and genetic alterations	View info

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