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
Microcephaly and Recurrent urinary tract infections, related diseases and genetic alterations View info
Microcephaly and Renal cyst, related diseases and genetic alterations View info
Microcephaly and Renal dysplasia, related diseases and genetic alterations View info
Microcephaly and Respiratory distress, related diseases and genetic alterations View info
Microcephaly and Retinal detachment, related diseases and genetic alterations View info
Microcephaly and Rigidity, related diseases and genetic alterations View info
Microcephaly and Rod-cone dystrophy, related diseases and genetic alterations View info
Microcephaly and Schizophrenia, related diseases and genetic alterations View info
Microcephaly and Scoliosis, related diseases and genetic alterations View info
Microcephaly and Sensory neuropathy, related diseases and genetic alterations View info
Microcephaly and Severe global developmental delay, related diseases and genetic alterations View info
Microcephaly and Short distal phalanx of finger, related diseases and genetic alterations View info
Microcephaly and Short neck, related diseases and genetic alterations View info
Microcephaly and Short philtrum, related diseases and genetic alterations View info
Microcephaly and Situs inversus totalis, related diseases and genetic alterations View info
Microcephaly and Skeletal dysplasia, related diseases and genetic alterations View info
Microcephaly and Sloping forehead, related diseases and genetic alterations View info
Microcephaly and Smooth philtrum, related diseases and genetic alterations View info
Microcephaly and Sparse hair, related diseases and genetic alterations View info
Microcephaly and Sparse scalp hair, related diseases and genetic alterations View info