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Parkinsonism in GNDs692Figure S2. continued0-24$-49P-74u-100%Genetic conditionNumber of casesMale *Intellectual disability *Mean age at motor onsetBradykinesia, hypokinesia or akinesia *Rigidity *Rest tremor *Postural instability *Asymmetric motor symptoms *Progression of motor signs *Reduced DAT binding with dopaminergic imagingGood response antiparkinsonian medication *Levodopa-induced dyskinesia *Cognitive decline/ Psychiatric symptomsProposed main cause of parkinsonism: Parkinson’s disease Genetic Drug-inducedCo-existing neurologic disorder: Epilepsy/seizures Dystonia Ataxia OtherMevalonic aciduria 1 1/1 0/1 32 1/1 1/1 0/1 - 1/1 1/1 - - - - 0 - - - - 1/1 0 1 0 0Molybdenum cofactor deficiency type B (MOCS2) 1 0/1 0/1 23 1/1 1/1 0/1 - 1/1 1/1 - 0/1 - 0 0 - - - - 1/1 0 0 0 1Mucolipidosis type II (GNPTAB)1 1/1 1/1 16 1/1 1/1 1/1 - 1/1 1/1 - - - 0 0 - - - - 1/1 0 0 0 1Myotonic dystrophy type 1 (DMPK)1 0/1 0/1 53 1/1 1/1 0/1 1/1 0/1 1/1 1/1 0/1 - 0 0 - - - - 0/1 0 0 0 0NUS1 1 1/1 - - 1/1 0/1 1/1 1/1 - 1/1 - 0/1 - 0 0 1/1 0 1 0 1/1 0 0 1 1PNPLA6 1 1/1 0/1 45 1/1 - 1/1 - - 1/1 1/1 1/1 - 0 0 1/1 0 1 0 1/1 0 1 1 1Rapid onset dystonia,parkinsonism (ATP1A3)1 0/1 1/1 10 1/1 1/1 0/1 - 1/1 1/1 - - - 1 0 1/1 0 1 0 1/1 0 1 0 0SCA27 (FGF14) 1 1/1 0/1 20 1/1 1/1 1/1 1/1 1/1 1/1 - 1/1 - 0 1 1/1 0 1 0 1/1 0 0 1 0Seipinopathy (BSCL2) 1 1/1 0/1 - 1/1 1/1 1/1 0/1 1/1 - - 1/1 - 0 0 1/1 1 0 0 1/1 0 0 0 1Smith-Magenis Syndrome (RAI1) e(1) 1/1 - 33 1/1 1/1 0/1 - - - - - - 0 0 1/1 0 1 0 0/1 0 0 0 0Tay Sachs disease (HEXA) 1 1/1 0/1 2 1/1 0/1 1/1 1/1 - 0/1 - - - 0 0 - - - - 1/1 1 0 1 1Copy number variant22q11.2 deletion syndrome j 56 35/4930/3839 46/47 46/46 44/47 21/38 32/40 20/40 19/20 32/3418/40 9 41 56/5648 8 0 >17/56 16 16 0 1Angelman syndrome/ 15q11-13 deletion or uniparental disomy2 1/2 2/2 19 2/2 2/2 2/2 - - - - 2/2 - 0 0 2/2 0 2 0 2/2 2 0 1 216p11.2 deletion syndrome 1 1/1 1/1 17 1/1 1/1 0/1 1/1 1/1 - - 1/1 - 0 0 - - - - 1/1 0 0 1 116p11.2 duplication syndrome1 1/1 1/1 35 1/1 1/1 1/1 - 0/1 1/1 1/1 0/1 0/1 0 0 1/1 0 1 0 1/1 0 0 0 16p25 deletion 1 0/1 1/1 20 1/1 1/1 0/1 1/1 1/1 1/1 1/1 1/1 - 0 0 1/1 0 1 0 1/1 0 0 0 1Partial 4q trisomy 1 0/1 1/1 30 1/1 1/1 1/1 - 1/1 1/1 1/1 1/1 1/1 0 0 - - - - 1/1 0 0 1 1Partial 6q trisomy j 1 1/1 1/1 35 1/1 1/1 1/1 1/1 1/1 1/1 - 1/1 0/1 1 0 1/1 1 0 0 0/1 0 0 0 0AneuploidDown syndrome 23 14/186/6 32 20/22 21/23 10/23 1/2 5/5 6/6 - 9/13 0/5 18 2 18/2313 5 0 17/23 14 0 0 5Klinefelter syndrome k 7 7/7 0/2 23 6/6 7/7 6/7 1/2 3/4 2/2 3/3 2/2 0/1 0 3 7/7 4 3 0 1/7 0 1 0 0Turner syndrome l 2 0/2 0/1 50 1/1 1/1 0/1 - - 2/2 1/1 - 1/1 0 0 - - - - 1/2 0 0 0 1* The numerator represents how many patients were reported to present with a specific feature,and the denominator represents the number of patients with data available.Additional genetic mutations with potential relevance to parkinsonism were reported: a LRRK2, bPRKN, c ADORA (2 patients), d FMR1 premutation, e One case was known to have a pathogenic variant in both SLC9A6 and RAI1, f CHRNA6, g atypical 22q11.2 deletion of 108kb involving PRODHand DGCR2, h mild phenylalanine hydroxylase deficit with compound heterozygosity for twomissense variants, i HTRA2 (2 patients), 45,X[3]/46,XX] mosaic Turner syndrome, j PRKN, k PRKN, l TAF1 (mosaicism): “XDP-disease-specific change 3”. - = unknown.