What is a rare disease?
A low-prevalence disease, often presenting in childhood.
Symptoms
Diverse multisystem features.
Genetic causes
Monogenic mutations, CNVs and structural variants.
Inheritance pattern
Variable.
Important genes
Thousands of different genes.
Who should be tested?
Patients with unsolved diagnosis and multisystem features.
Recommended tests
WES, WGS, microarray.
Counseling
Result interpretation with a multidisciplinary team.