is a genetic corneal endothelial disorder causing progressive clouding and vision loss.

is a rare inherited corneal disorder causing cloudy vision from birth.

is a rare genetic condition causing facial weakness and variable hearing loss.

is a herpes infection acquired before birth, causing severe newborn illness.

is a rare inherited blood protein deficiency, prolonging clotting tests without bleeding.

is present at birth, affecting eye nerves; droopy eyelid, small pupil.

is a genetic disorder causing excess insulin and recurrent low blood sugar.

is a primary immune deficiency from birth causing low antibodies, frequent infections.

is a birth condition causing low sex hormones, delayed puberty, infertility.

is a birth defect where the thumb is underdeveloped or absent.

is a rare inherited bone marrow failure causing severe early-life anemia.

is a birth condition of low thyroid hormone affecting growth and development.

is a birth condition where the thyroid forms abnormally, causing low hormones.

is low thyroid function at birth from maternal antithyroid drugs, affecting development.

causes temporary underactive thyroid in newborns from maternal blocking antibodies.

is a rare genetic disorder causing sparse hair and early vision loss.

is a rare inherited skin disorder causing widespread redness and fine scaling.

is a genetic disorder causing scaly skin, intellectual disability, and spastic quadriplegia.

is a rare genetic condition causing scaly skin, small head, and paralysis.

is a rare, birth-present overgrowth of facial fat causing asymmetry and swelling.

causes inability to feel pain and severe intellectual and developmental impairments.

is a genetic condition with no pain, loss of smell, joint damage.

is a rare genetic disorder causing pain insensitivity and excessive sweating (hyperhidrosis).

is a rare inherited gut disorder causing enzyme deficiency and malabsorption.