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
Macrocephaly and Dolichocephaly, related diseases and genetic alterations View info
Macrocephaly and Downslanted palpebral fissures, related diseases and genetic alterations View info
Macrocephaly and Downturned corners of mouth, related diseases and genetic alterations View info
Macrocephaly and Dyskinesia, related diseases and genetic alterations View info
Macrocephaly and Dysphagia, related diseases and genetic alterations View info
Macrocephaly and Ectodermal dysplasia, related diseases and genetic alterations View info
Macrocephaly and Eczema, related diseases and genetic alterations View info
Macrocephaly and Elevated serum creatine phosphokinase, related diseases and genetic alterations View info
Macrocephaly and Encephalitis, related diseases and genetic alterations View info
Macrocephaly and Encephalopathy, related diseases and genetic alterations View info
Macrocephaly and Eosinophilia, related diseases and genetic alterations View info
Macrocephaly and Erythema, related diseases and genetic alterations View info
Macrocephaly and Everted lower lip vermilion, related diseases and genetic alterations View info
Macrocephaly and Facial asymmetry, related diseases and genetic alterations View info
Macrocephaly and Falls, related diseases and genetic alterations View info
Macrocephaly and Fatigue, related diseases and genetic alterations View info
Macrocephaly and Febrile seizures, related diseases and genetic alterations View info
Macrocephaly and Feeding difficulties, related diseases and genetic alterations View info
Macrocephaly and Focal seizures, related diseases and genetic alterations View info
Macrocephaly and Frontal bossing, related diseases and genetic alterations View info