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2 Possible Causes for Mutation in the NDST1 Gene

  • Autosomal Recessive Mental Retardation 46

    Definition A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT46 manifestations include delayed psychomotor development apparent from infancy or early childhood, delayed or absent[…][uniprot.org]

  • Autosomal Recessive Non-Syndromic Intellectual Disability

    NDST1 missense mutations in autosomal recessive intellectual disability Reuter, M. S.; Musante, L.; Hu, H.; Diederich, S.; Sticht, H.; Ekici, A. B.[deepdyve.com] Identification of a novel candidate gene for nonsyndromic autosomal recessive intellectual disability: the WASH complex member SWIP Ropers, F.; Derivery, E.; Hu, H.; Garshasbi[deepdyve.com]

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