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Chapter 260Genetic disease/neurodevelopmental disordergenetic disorder/de or exp chromosome disorder/ or exp sequence of congenital defects/ or multiple malformation syndrome/ or intellectual impairment/de or exp mental deficiency/ or “inborn error of metabolism”/ or exp X chromosome linked disorder/ or (“genetic disease*” or “genetic disorder*” or “hereditary disease*” or “hereditary disorder*” or “single-gene defect*” or “chromosome disorder*” or “chromosomal disorder*” or “inborn error metabolism*” or “inborn metabolism error*” or “intellectual disabilit*” or “mental retardation*” or “Intellectual Development Disorder*” or “Intellectual Developmental Disorder*” or “mental deficienc*” or “neurodevelopmental delay*” or “neurodevelopment delay*” or “X-linked genetic disease*”).ti,ab,kw. OR #(list ND/HPO for Embase)NOTexp Wolff Parkinson White syndrome/ or exp Wilson disease/ or exp Gaucher disease/ or (“wolff-parkinson-white” or WPW syndrome* or “Fragile X Tremor Ataxia” or “FXTAS” or “premutation” or Wilson dis* or Wilson`s dis* or “hepatolenticular degeneration” or “Gaucher” OR GBA deficienc* or glucocerebrosidase deficienc*).ti,ab,kw. List of genetic disorders associated with neurodevelopmental abnormality (ND/HPO-list)Adjustments to the original HPO/ND-list in order to increase the number of relevant results1. Removal of every “-“, e.g. “cerebro-oculo-nasal syndrome” “cerebro oculo nasal syndrome”2. Removal of “microdeletion/duplication” and “syndrome” from all notations concerning copy number variations (CNVs), e.g. “22q11.2 microduplication syndrome”3. Removal of “syndrome” from all notations concerning sex chromosomal abnormalities, e.g. “49,XXXYY syndrome”4. Removal of “syndrome” and “disease” at the end of diseases named after persons, e.g. “Prader Willi syndrome”, in exception of e.g. “Down syndrome”, “Weaver syndrome” and “Cohen