Risk factors of Hartnup disease: 1. Hartnup disease is caused by mutations in the SLC6A19 gene. These mutations are inherited in an autosomal recessive manner. 2. Most genetic diseases are determined by the status of the two copies of a gene, one received from the father and one from the mother. 3. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same  Read More

Pigmented Dermatosis, Siemens-bloch type, otherwise also termed as Incontinentia Pigmenti (PI) is a rare X-linked dominant genodermatosis condition. It’s more common in males and normally considered lethal pre-birth. Significant loss of hair of the scalp and body (alopecia), dental abnormalities (smaller than usual teeth, lesser teeth), eye issues that can cause vision loss, and linted/pinted fingernails as well as toena  Read More