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 Short distal phalanx of finger, related diseases and genetic alterations	View info
Low-set ears and Short metacarpal, related diseases and genetic alterations	View info
Low-set ears and Short neck, related diseases and genetic alterations	View info
Low-set ears and Short palpebral fissure, related diseases and genetic alterations	View info
Low-set ears and Short philtrum, related diseases and genetic alterations	View info
Low-set ears and Single transverse palmar crease, related diseases and genetic alterations	View info
Low-set ears and Situs inversus totalis, related diseases and genetic alterations	View info
Low-set ears and Skeletal dysplasia, related diseases and genetic alterations	View info
Low-set ears and Skin rash, related diseases and genetic alterations	View info
Low-set ears and Small hand, related diseases and genetic alterations	View info
Low-set ears and Sparse hair, related diseases and genetic alterations	View info
Low-set ears and Sparse scalp hair, related diseases and genetic alterations	View info
Low-set ears and Spina bifida, related diseases and genetic alterations	View info
Low-set ears and Talipes equinovarus, related diseases and genetic alterations	View info
Low-set ears and Talipes, related diseases and genetic alterations	View info
Low-set ears and Tall stature, related diseases and genetic alterations	View info
Low-set ears and Tetralogy of Fallot, related diseases and genetic alterations	View info
Low-set ears and Thin skin, related diseases and genetic alterations	View info
Low-set ears and Thrombocytopenia, related diseases and genetic alterations	View info
Low-set ears and Toe syndactyly, related diseases and genetic alterations	View info

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