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Renal agenesis
- ... megalin protein. However, it is unclear how these abnormalities result in the specific signs and symptoms of the disorder.A condition previously classified as a separate disorder called facio-oculo-acoustico-renal (FOAR) syndrome has also been found to be ...
- ... affect one or both kidneys.Additionally, people with renal coloboma syndrome ... caused by these abnormalities can vary depending on the size and location ...
- ... typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis. Autosomal dominant osteopetrosis is the most ...
- ... of calcium in the kidneys (nephrocalcinosis) or kidney (renal) cysts.Many ... aciduria). This abnormality, which provides a clue to the diagnosis, does ...
- ... Kidney, embryoma Kidney, embryonal mixed tumor Nephroblastoma Nephroma Renal adenosarcoma Renal cancer, Wilms Renal Wilms tumor Tumor, Wilms Wilms' tumor Genetic Testing ...
- ... is sufficient to cause the disorder. Anal-ear-renal-radial malformation syndrome Deafness-imperforate anus-hypoplastic thumbs syndrome Imperforate anus-hand and foot anomalies syndrome Renal-ear-anal-radial syndrome (REAR) Sensorineural deafness-imperforate ...
- ... MYH9-related disorder develop hearing loss caused by abnormalities of the ... develop renal disease, usually beginning in early adulthood. The first ...
- ... disorder in their family. Absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation GPS Genetic ... a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. J Med ...
- ... males, progressive kidney problems lead to end-stage renal disease (ESRD) in early to mid-adulthood. ESRD ... Wrong O, Jentsch TJ, Thakker RV. Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney ...
- ... movement. This combination of skeletal problems and spinal abnormalities is ... often have kidney (renal) disease that may lead to life-threatening renal ...