Microcephaly combined with a smooth brain surface points to microlissencephaly; genes including LIS1, DCX and TUBA1A govern neuronal migration and can be tested.
Bleeding mainly after surgery, dental work or injury can be mistaken for von Willebrand disease; a silent F8 variant causing exon skipping led to a revised diagnosis.
Hearing loss, muscle weakness and episodes of lactic acidosis characterize this syndrome, most often traced to a mutation in the mitochondrial MT-TL1 gene.
Unlike type 1 and type 2 diabetes, monogenic diabetes follows from a single gene change such as Arg1379His in ABCC8, and some people respond to sulfonylureas.
Narrowing of the internal carotid arteries creates a fragile network of vessels and raises stroke risk; RNF213 markers can flag relatives who need closer monitoring.
Explore multicystic kidney dysplasia, its genetic roots, and how genetic testing aids in diagnosis, family planning, and management of this renal condition.
Explore how genetic testing aids in diagnosing myotonic dystrophy, supports early intervention, personalized treatment plans, and family planning decisions.
Starting in the nasopharynx, this cancer can cause nasal congestion, hearing loss and neck lumps; testing tumors for PI3K-Akt/mTOR/AMPK changes informs therapy.