is a genetic retinal disorder that progressively impairs central vision.

is a rare inherited metabolic disorder causing dangerous ketoacidosis episodes.

is an immune reaction to penicillin-family antibiotics, causing rashes or anaphylaxis.

is a rare genetic lysosomal disorder causing developmental delay and hearing loss.

is a rare genetic metabolic disorder causing abnormal sulfur compounds in urine.

is a rare genetic disorder with developmental delays, seizures, progressive movement problems.

is an inherited muscle disorder causing progressive hip and shoulder weakness.

is an inherited blood disorder causing low hemoglobin, anemia, and complications.

involve reduced beta-globin production causing anemia, fatigue, and organ complications.

is an inherited blood disorder with beta-thalassemia plus another hemoglobin variant.

is an inherited hemoglobin disorder causing moderate anemia and occasional transfusions.

is a hereditary blood disorder causing reduced hemoglobin, anemia, and organ complications.

is a rare X-linked disorder causing anemia and low platelets (thrombocytopenia).

is a rare inherited metabolic disorder affecting pyrimidine breakdown, causing developmental delays.

is a rare, inherited muscle disorder causing joint contractures and gradual weakness.

is a rare inherited BH4 defect causing high phenylalanine and neurotransmitter deficiencies.

is an autosomal dominant neuromuscular disorder causing early proximal weakness.

is a congenital reproductive anomaly: bicornuate uterus, double cervix, obstructed hemivagina.

is a congenital uterine difference with two horns, two cervices, open vagina.

is inflammation of the biceps tendon sheath causing front shoulder pain.

is a rare autoimmune brainstem inflammation causing confusion, imbalance, and eye weakness.

is a congenital heart-shaped uterus that can affect pregnancy outcomes.

is a very rare genetic condition causing multiple congenital anomalies.

is a rare inherited eye disease causing progressive vision loss.