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Chapter 266Figure 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 OtherDopa-responsive dystonia (GCH1) 4 2/4 0/4 40 3/3 2/2 2/2 1/1 1/2 2/2 1/1 3/3 2/310---- 2/40200Dystonia 16 (PRKRA)4 3/4 0/4 11 3/3 1/1 1/1- 3/3 3/3- 0/3-00---- 4/40400Glutaric aciduria type 14 3/4-<214/4 4/4-------00---- 4/40401Phenylketonuria (PAH)4 1/4 3/4 34 4/4 3/4 3/3 1/1 1/1 1/2 1/2 3/3 0/200 2/4110 1/41000PPP2R5D4 2/4 4/4 27 3/3 3/3 3/4 2/2 3/3 4/4 2/2 4/4 1/412 4/4040 4/41202Leigh syndrome (MT-ATP6 and MT-MFT)3 1/3 1/3 31 2/2 2/2 2/3 0/1 0/1 3/3 1/1 0/2-01 2/3110 3/32111Menkes disease (ATP7A)3 0/3 1/1 50-- 1/1- 3/3- 1/1 0/2-00 3/3030 1/31000Dopa-responsive dystonia, Sepiapterin reductase deficiency (SR) 2 2/2 1/2 15 1/1 1/1 1/2- 1/1 2/2- 2/2 2/200 1/1010 2/21201Early infantile epileptic encephalopathy 4 (STXBP1)2 0/2 2/29 2/2 2/2 2/2 1/1 2/2 2/2---00 2/2020 2/22112L2-hydroxyglutaric aciduria (L2HGDH)2 1/2 0/1 38 2/2 2/2 1/2 2/2 1/2 2/2 1/1 1/2 0/110 2/2110 2/20111SPG10 (KIF5A)2 0/2 0/2 55 2/2 1/1 1/2- 2/2 1/1- 1/1-00---- 1/20001WARS2f2 2/2 0/11 1/1 0/1 2/2 1/1 1/1 2/2 1/1 2/2 1/100 1/1010 2/20201X-linked adrenoleukodystrophy (ABCD1)2 2/2 0/2 58 1/1 1/1 0/1- 1/1 1/1 1/1 1/1-00 1/1100 1/200015,10-methylenetetrahydrofo-late reductase deficiency1 0/1-2 1/1 1/1 1/1-- 1/1 1/1- 0/100---- 1/10010Argininosuccinate Lyase Deficiency g1 0/1 1/1 61 1/1 1/1 1/1 1/1 0/1----00---- 1/10011CLTCh1 0/1 1/14 1/1 1/1 0/1-- 1/1 0/1 0/1-01 1/1010 1/10011Cornelia de Lange syndrome1 1/1 1/1 30 1/1 1/1 0/1 1/1 0/1 1/1- 1/1 0/100---- 1/11101Cowden syndrome (PTEN)1 0/1 0/1 66---------01 1/1100 0/10000MT-CYB 1 1/1 0/1 15 1/1 1/1 1/1 1/1 1/1 1/1---00---- 1/11001DOORS syndrome (ATP6V1B2)1 1/1 1/1 63- 1/1 1/1- 1/1 1/1- 0/1-01 0/1 1/11001Dopamine transporter deficiency syndrome (SLC6A3)1-- 0.5 1/1 1/1 0/1 0/1- 1/1---00 1/1010 1/10101Early-onset Lafora disease (EPM2A)1 0/1 0/1 14 1/1 1/1 1/1-- 1/1---10---- 1/11001HSD10 (HSD17B10)1 0/1 1/1 17 1/1 1/1 0/1- 1/1 1/1 1/1--11---- 0/10000Incontinentia Pigmenti (IKBKG) 1 0/1 0/1 48 1/1--- 1/1 1/1 1/1 1/1-10 1/1010 0/10000Leigh-like syndrome (MT-TI)1 1/1- 16 1/1 1/1 0/1-- 1/1- 1/1-11---- 0/10000