Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance.
Oculocutaneous albinism(OCA) is a group of autosomal recessive disorders of melanin synthesis,which is characterized by congenital hypopigmentation of skin,hair and eyes.
Individuals with tuberous sclerosis have a mutation in either the gene TSC1 or TSC2, and these mutations have an autosomal dominant inheritance pattern.
CF is an autosomal recessive disorder involving the CFTR gene, which stands for " cystic fibrosis transmembrane conductance regulator, " and this gene codes for the CFTR protein.
Now most of these gene mutations are inherited in an autosomal dominant pattern, meaning that one copy of an altered SCA gene is enough to cause the disease.
All right, as a quick recap, acute intermittent porphyria is an autosomal dominant disorder caused by a deficiency of the enzyme porphobilinogen deaminase in the heme synthesis pathway.
CF develops when there's a mutation in the CFTR gene, but because it's autosomal recessive, you need to inherit two mutated CFTR genes, one from mom and one from dad.
As a quick recap: sickle cell disease is an autosomal recessive genetic disease where the beta-globin subunit of hemoglobin is misshapen, which causes red blood cells to sickle when deoxygenated.
There are also genetic risk factors like having the BRCA-1 or BRCA-2 mutation, which are both autosomal dominant mutations, which in addition to ovarian cancer, carry with them an increased risk of breast cancer.