Results 1 -
10
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19
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MASS syndrome
- ... Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal ...
- ... atrophy (neurogenic atrophy), leading to loss of muscle mass and impaired movement. Individuals with McLeod neuroacanthocytosis syndrome may also have reduced sensation and weakness in ...
- ... these organs and leading to a fluid-filled mass. Other genital abnormalities associated with McKusick-Kaufman syndrome can include a urethral opening on the underside ...
- ... de Vernejoul MC. LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders. Joint Bone Spine. 2005 May;72(3): ...
- ... or incomplete puberty, breast enlargement (gynecomastia), decreased muscle mass, decreased bone density, a reduced amount of facial and body hair, and fatigue. Klinefelter syndrome can make it difficult for people with this ...
- ... Wilson MC, Hogarty MD, Maris JM. Pediatric horner syndrome: etiologies and roles of imaging and urine studies to detect neuroblastoma and other responsible mass lesions. Am J Ophthalmol. 2006 Oct;142(4): ...
- ... in each cell (homozygotes) have significantly increased muscle mass and strength. People with a variant in one copy of the MSTN gene in each ... Testing Registry: Myostatin-related muscle hypertrophy Myostatin- ...
- ... affected males are thin and have low muscle mass, a body type described as an ... syndrome causes skeletal problems, particularly thinning of the bones ( ...
- ... neurological features of SLC35A2-CDG. CDG IIm CDG syndrome type IIm CDG-IIm CDG2M CDGIIm Congenital disorder ...
- ... back pain, blood in the urine, or a mass in the kidney that can be felt upon ... and uterine leiomyomata Multiple cutaneous leiomyoma Reed's syndrome Genetic Testing Registry: Hereditary leiomyomatosis and renal cell ...