Table 1 Search terms for genetic syndromes

Angelman syndrome (AS)

"Angelman*" OR "Angelman* syndrome" OR "Happy puppet syndrome" OR "Happy puppet"

CHARGE syndrome (CS)

"CHARGE" OR "CHARGE syndrome" OR "CHARGE association" OR "Hall-Hittner* syndrome" OR "Hall* Hittner* syndrome" OR "Coloboma"

*Cornelia de Lange syndrome (CdLS)

"Cornelia de Lange* syndrome" OR "CDLS" OR "De Lange* syndrome" OR "Branchmann-De Lange* syndrome" OR "BDLS" OR "Brachmann* syndrome" OR "Amstelodamensis typus degenerativus" OR "Amsterdam dwarf syndrome" OR "Amsterdam dwarfism" OR "Typus degenerativus amstelodamensis"

*Cri du Chat syndrome (CdC)

"Cri-du-Chat" OR "Cat cry syndrome" OR "5p minus syndrome" OR "Chromosome 5p deletion syndrome" OR "5p- syndrome; Monosomy 5p" OR "5p deletion syndrome" OR "Chromosome 5p- syndrome"

*Down Syndrome (DS)

"Down* syndrome" OR "Trisomy 21" OR "Trisomy G" OR "47,XX,+21" OR "47,XY,+2"

*Fragile X syndrome (FXS)

"Fragile X" OR "Fragile-X" OR "Fragile X syndrome" OR "FXS" OR "FRAXA syndrome" OR "AFRAX" OR "Martin-Bell* syndrome" OR "Marker X syndrome" OR "fraX syndrome" OR "fra(X) syndrome" OR "X-linked mental retardation" OR "Macroorchidism" OR "Escalante* syndrome" OR "Escalante*"

Hurler syndrome (Hurler)

"Hurler*" OR "Mucopolysaccharidosis Ih" OR "MPS1-H" OR "MPS1H" OR "Mucopolysaccharidosis type 1H" OR "Mucopolysaccharidosis type IH" OR "Hurler disease" OR "MPSIH"

Jacobsen syndrome (JS)

"Jacobsen syndrome" OR "Jacobsen*" OR "JBS" OR "Chromosome 11q deletion syndrome" OR "Partial 11q monosomy syndrome"

Juvenile neuronal ceroid-lipofuscinosis (JNCL)

"juvenile neuronal*" OR "JNCL" OR "Neuronal ceroid lipofuscinosis 3" OR "Juvenile neuronal ceroid lipofuscinosis" OR "Vogt Spielmeyer disease" OR "Spielmeyer Sjogren disease" OR "CLN3 disease"

Lesch-Nyhan syndrome (LNS)

"Lesch-Nyhan syndrome" OR "LNS" OR "HPRT deficiency" OR "HPRT1 deficiency" OR "HPRT deficiency, complete" OR "Hypoxanthine guanine phospho-ribosyltransferase 1 deficiency" OR "Lesch-Nyhan syndrome" OR "Lesch Nyhan disease"

Mucopolysaccharidosis Type II (MPS II)

"Hunter*" OR "Mucopolysaccharidosis type II" OR "MPS II" OR "Attenuated MPS" OR "Severe MPS II" OR "Hunter syndrome" OR "Iduronate 2-sulfatase deficiency" OR "I2S deficiency" OR "MPS 2"

Mucopolysaccharidosis Type IIIB (MPS IIIB)

"sanfilippo*" OR "Mucopolysaccharidosis type III" OR "Mucopoly-saccharidosis type 3" OR "Sanfilippo syndrome" OR "MPSIII" OR "Mucopolysaccharidosis type 3" OR "Sanfilippo disease"

Mucopolysaccharidosis Type IV (MPS IV)

"Morquio*" OR "Morquio syndrome B" OR "Mucopolysaccharidosis type IVB" OR "MPS IVB" OR "MPS 4B"

*Neurofibromatosis (NF)

"Neurofibromatosis" OR "Neurofibromatosis type 1" OR "Neurofibromatosis 1" OR "NF1" OR "Peripheral Neurofibromatosis" OR "Recklinghausen* disease" OR "Neurofibromatosis type 2" OR "Neurofibromatosis 2" OR "NF2" OR "Central neurofibromatosis" OR "Bilateral acoustic neurofibromatosis" OR "BANF" OR "Familial acoustic neuromas"

Norrie disease (Norrie)

"Atrophia bulborum hereditaria" OR "Pseudoglioma" OR "Episkopi blindness" OR "Norrie*" OR "Norrie-Warburg syndrome" OR "Anderson-Warburg syndrome" OR "NDP" OR "Fetal iritis syndrome"

*Prader–Willi syndrome (PWS)

"PWS" OR "Prader–Willi*" OR "Willi–Prader syndrome" OR "Prader–Labhart–Willi syndrome"

*Rett Syndrome (Rett)

"Rett*" OR "Rett* syndrome" OR "Rett* disorder" OR "RTS" OR "RTT" OR "Cerebroatrophic hyperammonemia" OR "Autism-dementia-ataxia-loss of purposeful hand use syndrome"

Smith–Lemli–Opitz syndrome (SLOS)

"Smith Lemli Opitz syndrome" OR "SLO syndrome" OR "7-Dehydrocholesterol reductase deficiency" OR "RSH syndrome" OR "SLOS" OR "Rutledge lethal multiple congenital anomaly syndrome" OR "Polydactyly, sex reversal, renal hypoplasia, and unilobular lung" OR "Lethal acrodysgenital syndrome"

Smith–Magenis syndrome (SMS)

"Smith–Magenis*" OR "smith magenis" OR "Chromosome 17p11.2 deletion syndrome" OR "17p- syndrome" OR "17p11.2 monosomy" OR "chromosome 17p deletion syndrome" OR "deletion 17p syndrome" OR "partial monosomy 17p" OR "SMS"

Tuberous Sclerosis Complex (TSC)

"Tuberous sclerosis" OR "Tuberous sclerosis syndrome" OR "Bourneville* disease" OR "Bourneville* phakomatosis" OR "Cerebral sclerosis" OR "Cerebral sclerosis syndrome" OR "Epiloia" OR "Sclerosis tuberose" OR "Tuberose sclerosis" OR "Tuberose sclerosis syndrome" OR "Tuberous sclerosis complex" OR "TSC" OR "TSS"

*Williams syndrome (WS)

"William*" OR "William* syndrome" OR "Beuren* syndrome" OR "Elfin Facies syndrome" OR "Hypercalcemia-Supravalvar Aortic Stenosis" OR "Infantile hypercalcemia" OR "Supravalvar aortic stenosis syndrome" OR "WBS" OR "Williams-Beuren* syndrome" OR "WMS" OR "WS" OR "WBS"