Spina bifida and anencephaly follow when the neural tube fails to close in early pregnancy; ARMC5 mutations and folic acid intake both figure in assessing risk.
Iron deposits in the basal ganglia bring movement disorders, psychiatric symptoms and cognitive decline; MRI shows the deposits, and gene testing names the cause.
Germline mosaicism and a high rate of new mutations complicate preimplantation testing for this dominant condition, which affects about 1 in 3,000 people.
Complement proteins, particularly C3, settle in the kidney's filtering units in this form of MPGN, and gene testing refines diagnosis and transplant planning.
Loss of tyrosinase activity from TYR gene mutations reduces melanin in skin, hair and eyes. Carrier identification and early vision care for OCA1 are explained.
Hearing loss, cleft palate and limb abnormalities span OPDSD, which includes Melnick-Needles syndrome; FLNA testing confirms it and shapes management plans.
Abdominal pain, weight loss and jaundice can signal this rare childhood liver cancer, which is often linked to metabolic disorders such as tyrosinemia type 1.
One vessel carries both pulmonary and aortic flow in this congenital heart defect, mixing oxygenated and deoxygenated blood; a TBX20 mutation has been implicated.