Rare Disease Index

facial dysmorphism, hepatic cysts)

human disease

human disease

Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit

Pompe disease is an autosomal recessive glycogen storage disorder caused by pathogenic variants in GAA, leading to acid alpha-glucosidase deficiency and lysosomal glycogen accumulation. Infantile-onset disease causes cardiomyopathy, hypotonia, respiratory failure, and feeding difficulties, while late-onset forms mainly cause limb-girdle weakness and respiratory insufficiency. It is rare, and multiple enzyme replacement therapies are established or approved in several jurisdictions.

legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

human disease

Human disease

Human disease

Human disease

human disease

Human disease

gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.

human disease

human disease

Human disease