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 Autistic behavior, related diseases and genetic alterations	View info
Low-set ears and Bifid uvula, related diseases and genetic alterations	View info
Low-set ears and Brachycephaly, related diseases and genetic alterations	View info
Low-set ears and Brachydactyly, related diseases and genetic alterations	View info
Low-set ears and Broad forehead, related diseases and genetic alterations	View info
Low-set ears and Bulbous nose, related diseases and genetic alterations	View info
Low-set ears and Camptodactyly, related diseases and genetic alterations	View info
Low-set ears and Cerebral calcification, related diseases and genetic alterations	View info
Low-set ears and Cleft upper lip, related diseases and genetic alterations	View info
Low-set ears and Clinodactyly of the 5th finger, related diseases and genetic alterations	View info
Low-set ears and Clinodactyly, related diseases and genetic alterations	View info
Low-set ears and Coarctation of aorta, related diseases and genetic alterations	View info
Low-set ears and Coarse facial features, related diseases and genetic alterations	View info
Low-set ears and Confusion, related diseases and genetic alterations	View info
Low-set ears and Congenital cataract, related diseases and genetic alterations	View info
Low-set ears and Congenital diaphragmatic hernia, related diseases and genetic alterations	View info
Low-set ears and Corneal opacity, related diseases and genetic alterations	View info
Low-set ears and Craniosynostosis, related diseases and genetic alterations	View info
Low-set ears and Dandy-Walker malformation, related diseases and genetic alterations	View info
Low-set ears and Deeply set eye, related diseases and genetic alterations	View info

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