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 Narrow forehead, related diseases and genetic alterations	View info
Low-set ears and Narrow mouth, related diseases and genetic alterations	View info
Low-set ears and Neonatal hypotonia, related diseases and genetic alterations	View info
Low-set ears and Neoplasm of the skin, related diseases and genetic alterations	View info
Low-set ears and Nephropathy, related diseases and genetic alterations	View info
Low-set ears and Neuroblastoma, related diseases and genetic alterations	View info
Low-set ears and Neurological speech impairment, related diseases and genetic alterations	View info
Low-set ears and Oligohydramnios, related diseases and genetic alterations	View info
Low-set ears and Omphalocele, related diseases and genetic alterations	View info
Low-set ears and Optic atrophy, related diseases and genetic alterations	View info
Low-set ears and Osteoarthritis, related diseases and genetic alterations	View info
Low-set ears and Osteoporosis, related diseases and genetic alterations	View info
Low-set ears and Overgrowth, related diseases and genetic alterations	View info
Low-set ears and Pallor, related diseases and genetic alterations	View info
Low-set ears and Pancreatitis, related diseases and genetic alterations	View info
Low-set ears and Papule, related diseases and genetic alterations	View info
Low-set ears and Paraplegia, related diseases and genetic alterations	View info
Low-set ears and Paresthesia, related diseases and genetic alterations	View info
Low-set ears and Pectus carinatum, related diseases and genetic alterations	View info
Low-set ears and Pectus excavatum, related diseases and genetic alterations	View info

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