Rarest Genetic Mutations in Human: You Should Know

Progeria: Rare genetic mutation causing rapid aging in children, leading to early death in teenage years.

Harlequin Ichthyosis: Genetic condition causing thick, scaly skin and potential breathing issues.

Fibrodysplasia Ossificans Progressiva: Rare disorder turning muscle and tissue into bone, causing joint issues.

Maple Syrup Urine Disease: Affects amino acid breakdown, leading to toxin build-up in the bloodstream and brain damage.

Trimethylaminuria: Genetic mutation causing a strong fish-like odor due to difficulty breaking down trimethylamine.

Congenital Insensitivity to Pain: Genetic disorder resulting in the inability to feel physical pain, increasing injury risks.

Blue Skin Disorder: Genetic mutation causing a blue-gray skin appearance from excess methemoglobin.

Xeroderma Pigmentosum: Mutation causing extreme UV sensitivity, leading to severe sunburns and skin cancer risk.