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Results 1 - 1 of 1 for Developmental epileptic encephalopathy 89
  1. 5q31.3 microdeletion syndrome 
    ... Testing Registry: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome ... novo 5q31.2q31.3 deletion involving PURA. Mol Cytogenet. 2015 Nov 14;8:89. doi: 10.1186/s13039-015-0193-9. eCollection ...
    https://medlineplus.gov/.../condition/5q313-microdeletion-syndrome - Genetics