Metabolic disorders

Chediak-Higashi syndrome is a rare genetic disorder affecting immune cell function and lysosomal organelles, leading to immune deficiency, bleeding disorders, light skin pigmentation, and neurological problems.

Hermansky-Pudlak syndrome is a rare genetic disorder associated with Gaucher disease, characterized by severe liver and spleen enlargement, skeletal abnormalities, and progressive neurological decline.

Hermansky-Pudlak syndrome is a rare genetic disorder affecting skin and eye pigmentation, causing bleeding disorders and lung or bowel diseases due to lysosomal dysfunction.

Papillon-Lefèvre syndrome is a rare genetic disorder characterized by thickened skin on the palms and soles (palmoplantar keratoderma), along with severe dental and jawbone issues that may lead to advanced periodontal disease.

Progressive muscular weakness, intellectual disability, and facial abnormalities syndrome due to a protein defect is a rare genetic disorder causing gradual muscle weakness, developmental delay, and distinct facial features due to a defect in a key cellular protein.