58 top medical experts on Hypotonia-Cystinuria Syndrome across 6 countries and 3 U.S. states, including 6 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Hypotonia-Cystinuria Syndrome: A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Synonyms: Cystinuria with Mitochondrial Disease,  Homozygous 2p21 Deletion Syndrome


  

        

                    


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