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1 ACSL4 Mental/retardation,/XBlinked/63 XLBR ADSL Adenylosuccinase/Deficiency AR AFF2 Mental/retardation,/XBlinked,/FRAXE/type XLBR ALG6 Congenital/disorder/of/glycosylation/type/Ic AR ANK3 Mental/retardation,/autosomal/recessive/37 AD AP1S2 Mental/retardation,/XBlinked/syndromic,/Fried/type XLBR AP4B1 spastic/paraplegia/47,/atuosomal/recessive AR AP4E1 spastic/paraplegia/51,/atuosomal/recessive AR AP4M1 spastic/paraplegia/50,/atuosomal/recessive AR AP4S1 spastic/paraplegia/52,/atuosomal/recessive AR ARFGEF2 periventricular/hereotopia/&/microcephaly AR ARHGEF6 Mental/retardation,/XBlinked/46 XLBR ARHGEF9 Epileptic/encephalopathy,/early/infantile,/8 XLBR ARID1B Mental/retardation,/autosomal/dominant/12/(CoffinBSiris/syndrome) AD ARX Epileptic/encephalopathy,/early/infantile,/1;/Proud/Syndrome;/XBlinked/lissencephaly/with/abnormal/genitalia XLBR ASPM Microcephaly/primary/type/5 AR ATP6AP2 mental/retardation,/xblinked,/syndromic,/hedera/type XLBR ATRX Alpha/thalassemia/XBlinked/intellectual/disability/syndrome;/mental/retardationBhyptonic/facies/syndrome,/xBlinked XLBR AVPR1A Associated/with/intellectual/disability Other BBS4 BardetBBiedl/syndrome/4 AR BCKDK BranchedBchain/ketoacid/dehydrogenase/kinase/deficiency AR BCOR Lenz/Microphthalmia/Syndrome;/OCULOFACIOCARDIODENTAL/SYNDROME/(OFCD) XLBR BDNF Central/hypoventilation/syndrome,/congenital AD BRAF Cardiofaciocutaneous/syndrome;/LEOPARD/sydrome;/Noonan/syndrome AD BRWD3 Mental/retardation,/XBlinked/93 XLBR C12orf57 Temtamy/Syndrome AR CA8 Cerebellar/ataxia/and/mental/retardation/with/or/without/quadrupedal/locomotion/3 AR CACNA1C Timothy/syndrome AD CACNG2 Mental/retardation,/autosomal/dominant/10 AD CASK FG/syndrome/4;/Mental/retardation/and/microcephaly/with/pontine/and/cerebellar/hypoplasia XLBR CBL Noonan/syndromeBlike/disability AD CC2D1A Mental/retardation,/autosomal/recessive/3 AR CCDC22 Associated/with/intellectual/disability XLBR CDH15 Mental/retardation,/autosomal/dominant/3 AD CDKL5 Angleman/Syndrome;/epileptic/encephalopathy,/early/infantile,/2 XLBD CHD7 CHARGE/syndrome AR CHRNA7 intellectual/disabiliy,/epilepsy,/schizophrenia,/autism/spectrum/disorder AD/or/AR CLIC2 Mental/retardation,/XBlinked,/syndromic/32 XLBR CNTN4 Autism/susceptibility Unknown CNTNAP2 Cortical/dysplasiaBfocal/epilepsy/syndrome;/pittBhopkins/syndrome AR COMT susceptibility/to/panic/disorder;/susceptibility/to/schizophrenia Other CRBN Mental/retardation,/autosomal/recessive/2 AR CREBBP RubinsteinBTaybi/syndrome AD CTCF Mental/retardation,/autosomal/dominant/21 AD CTNNB1 Mental/retardation,/autosomal/dominant/19 AD CUL4B Mental/retardation,/XBlinked,/syndromic/15(Cabezas/type) XL D2HGDH DB2Bhydroxyglutaric/aciduria AR DCX epilepsy,/mental/retardation,/subcortical/band/heterotopia/("double/cortex"/syndrome) in/females/and/lissencephaly/("smooth/brain"/syndrome)/in/males XLBD DDHD2 Spastic/paraplegia/54,/autosomal/recessive AR Page/1
2 DHCR7 SmithBLemliBOpitz/syndrome AR DLG3 Mental/retardation,/XBlinked/90 XLBR DMD Becker/muscular/dystrophy;/Duchenne/muscular/dystrophy XLBR DYNC1H1 AD/intellectual/disability/12;/CharcotBMarieBTooth/disease,/axonal,/type/20;/spinal/muscular/atrophy AD DYRK1A Mental/retardation,/autosomal/dominant/7 AD EHMT1 Kleefstra/syndrome AD EIF2S3 Associated/with/intellectual/disability XLBR EP300 RubinsteinBTaybi/syndrome/2 AD EPB41L1 Mental/retardation,/autosomal/dominant/11 AD ERCC8 Cockayne/syndrome,/type/A AR ERLIN2 Spastic/paraplegia/18,/autosomal/recessive AR FGD1 AARSKOGBSCOTT/SYNDROME/(faciogenital/dysplasia)/and/XBlinked/mental/retardation,/syndromatic/16 XLBR FGF8 Hypogonadotropic/hypogonadism/6/with/or/without/anosmia Other FLNA FG/syndrome;/Heterotopia,/periventricular XLBR FMR1*** Fragile/X/syndrome/and/FMR1Brelated/disorders XLBD FOLR1 Neurodegeneration/due/to/cerebral/folate/transport/deficiency AR FOXG1 Rett/syndrome,/congenital/variant AD FOXP1 Mental/retardation/with/language/impairment/and/autistic/features Unknown FOXP2 SpeechBlanguage/disorderB1 AD FRMPD4 Associated/with/intellectual/disability XLBR FTSJ1 Mental/retardation,/XBlinked/9 XLBR GABRB3 Epilepsy,/childhood/absence,/susceptibility/to,/5 AD GATAD2B autosomal/dominant/intellectual/disability/18 AD GDI1 XBlinked/intellectual/disability/41 XLBD GNS Mucopolysaccharidosis/type/IIID/(Sanfilippo/D) AR GRIA3 Mental/retardation,/XBlinked/94 XLBR GRIK2 Mental/retardation,/autosomal/recessive,/6 AR GRIN1 Mental/retardation,/autosomal/dominant/8 AD GRIN2A Epilepsy,/focal,/with/speech/disorder/and/with/or/without/mental/retardation AD GRIN2B Mental/retardation,/autosomal/dominant/6 AD HCFC1 Mental/retardation,/XBlinked/3/(methylmalonic/acidemia/and/homocysteinemia,/cblX/type/) XLBR HDAC8 Cornelia/de/Lange/syndrome/5;/WilsonBTurner/syndrome AD HGSNAT Mucopolysaccharidosis/type/IIIC/(Sanfilippo/C) AR HOXA1 Athabaskan/brainstem/dysgenesis/syndrome;/BosleyBSalihBAlorainy/syndrome AR HPRT1 LeschBNyhan/syndrome XLBR HRAS Costello/syndrome/(Congenital/myopathy/with/excess/of/muscle/spindles) AD HSD17B10 17BbetaBhydroxysteroid/dehydrogenase/X/deficiency;/Mental/retardation,/XBlinked/syndromic/10 XLBR HTR2A Autism/association Other HTR2B Autism/association Other HUWE1 Mental/retardation,/XBlinked/syndromic,/Turner/type AD HYDIN Ciliary/dyskinesia,/primary,/5 AR IDH2 DB2Bhydroxyglutaric/aciduria/2 AD/or/AR IGBP1 Corpus/callosum,/agenesis/of,/with/mental/retardation,/ocular/coloboma/and/micrognathia XLBR IL1RAPL1 Mental/retardation,/XBlinked/21/34 XLBR IQSEC2 Mental/retardation,/XBlinked/1 XLBR KCNJ10 SESAME/syndrome AR KDM5C Mental/retardation,/XBlinked,/syndromic,/ClaesBJensen/type XLBR KIAA2022 Mental/retardation,/XBlinked XLBR KIF1A Mental/retardation,/autosomal/dominant/9;/Spastic/paraplegia/30,/autosomal/recessive AD KIRREL3 Mental/retardation,/autosomal/dominant/4 AD Page/2
3 KLF8 Associated/with/intellectual/disability XLBR KRAS Cardiofaciocutaneous/syndrome/2;/Noonan/syndrome/3 AD L1CAM Corpus/callosum,/partial/agenesis/of;/CRASH//MASAsyndrome XLBR L2HGDH LB2Bhydroxyglutaric/aciduria AR LRP2 DonnaiBBarrow/syndrome AR MAN1B1 Mental/retardation,/autosomal/recessive/15 AR MAOA Brunner/syndrome AD MAP2K1 Cardiofaciocutaneous/syndrome/3 AD MAP2K2 Cardiofaciocutaneous/syndrome/4 AD MARK1 Autism/association Other MBD1 Autism/association Other MBD5 Mental/retardation,/autosomal/dominant/1/(MRD1) AD MECP2 Encephalopathy,/neonatal/severe;/Rett/syndrome XLBR MED12 LujanBFryns/syndrome;/Ohdo/syndrome,/XBlinked;/OpitzBKaveggia/syndrome XLBR MED23 Mental/retardation,/autosomal/recessive/18/(MRT18) AR MEF2C Rett/atypical/Rett/syndromes AD MET autism/association/9 AR MID1 Opitz/GBBB/syndrome,/type/I XLBR MKKS BardetBBiedl/syndrome/6;/McKusickBKaufman/syndrome AR NAA10 Microphthalmia,/syndrome/1;/NBterminal/acetyltransferase/deficiency XLBR NAGLU Mucopolysaccharidosis/type/IIIB/(Sanfilippo/B) AR NF1 Neurofibromatosis,/type/1 AD NHS NanceBHoran/syndrome XLBD NIPBL Cornelia/de/Lange/syndrome/1 AD NLGN3 Asperger/syndrome/susceptibility,/XBlinked/1;/Autism/susceptibility,/XBlinked/1 XLBR NLGN4X Asperger/syndrome/susceptibility,/XBlinked/2;/Autism/susceptibility,/XBlinked/2;/Mental/retardation,/XBlinked XLBR NR1I3 Kleefstra/syndrome AD NRAS Noonan/syndrome/6 AD NRXN1 PittBHopkinsBlike/syndrome/2 AR NRXN2 Associated/with/intellectual/disability AD NSD1 BeckwithBWiedemann/syndrome;/Sotos/syndrome/1 AD NSDHL CHILD/syndrome;/CK/syndrome XLBD NSUN2 Mental/retardation,/autosomal/recessive/5 AR OCRL Dent/disease/2;/Lowe/syndrome XLBR OFD1 Joubert/syndrome/10;/OralBfacialBdigital/syndrome/1;/SimpsonBGolabiBBehmel/syndrome,/type/2 XLBR OPHN1 Mental/retardation,/XBlinked,/with/cerebellar/hypoplasia/and/distinctive/facial/appearance XLBR PACS1 Mental/retardation,/autosomal/dominant/17 AD PAFAH1B1 Lissencephaly/1;/Subcortical/laminar/heterotopia Sporadic PAK3 Mental/retardation,/XBlinked/30/47 XLBR PCDH19 Epileptic/encephalopathy,/early/infantile,/9 XLBR PCNT Microcephalic/osteodysplastic/primordial/dwarfism,/type/II AR PDHA1 Leigh/syndrome,/XBlinked;/Pyruvate/dehydrogenase/E1Balpha/deficiency XLBR PHF6 BorjesonBForssmanBLehmann/syndrome XLBR PHF8 Mental/retardation/syndrome,/XBlinked,/Siderius/type XLBR PLP1 PelizaeusBMerzbacher/disease;/Spastic/paraplegia/2,/XBlinked XLBR PNKP Epileptic/encephalopathy,/early/infantile,/10 AR PQBP1 Renpenning/syndrome XLBR PRPS1 Arts/syndrome;/CharcotBMarieBTooth/disease,/XBlinked/recessive,/5 XLBR PRSS12 Mental/retardation,/autosomal/recessive/1 AR PTCH1 HoloprosencephalyB7 Unknown Page/3
4 PTCHD1 Autism/susceptibility Unknown PTEN BannayanBRileyBRuvalcaba/syndrome;/Cowden/syndrome/1;/Macrocephaly/autism/syndrome AD PTPN11 LEOPARD/syndrome/1;/Noonan/syndrome/1 AD RAB39B Mental/retardation,/XBlinked/72 XLBR RAD21 Cornelia/de/Lange/syndrome/4 AD RAF1 LEOPARD/syndrome/2;/Noonan/syndrome/5 AD RAI1 SmithBMagenis/syndrome AD RELN Lissencephaly/2/(NormanBRoberts/type) AR RPGRIP1L COACH/syndrome;/Joubert/syndrome/7;/Meckel/syndrome/5 AR RPL10 Autism,/susceptibility/to,/XBlinked/5 XLBR RPS6KA3 CoffinBLowry/syndrome;/Mental/retardation,/XBlinked/19 XLBD SCN1A Dravet/syndrome;/Epilepsy,/generalized,/with/febrile/seizures/plus,/type/2///Febrile/seizures,/familial,/3A AD SCN2A Epileptic/encephalopathy,/early/infantile,/11;/Seizures,/benign/familial/infantile,/3 AR SGSH Mucopolysaccharidosis/type/IIIA/(sanfilippo/A) AR SHANK2 Autism/susceptibility/17 Other SHANK3 PhelanBMcDermid/syndrome AD SHOC2 NoonanBlike/syndrome/with/loose/anagen/hair AD SHROOM4 Stocco/dos/Santos/XBlinked/mental/retardation/syndrome XLBR SLC16A2 AllanBHerndonBDudley/syndrome XLBD SLC25A1 Combined/DB2B/and/LB2Bhydroxyglutaric/aciduria AR SLC2A1 Epilepsy,/idiopathic/generalized,/suscpetibility/to,/12;/GLUT1/deficiency/syndrome/1;/GLUT1/deficiency/syndrome/2 AD SLC6A4 AnxietyBrelated/personality/traits;/ObsessiveBcompulsive/disorder Other SLC6A8 Cerebral/creatine/deficiency/syndrome/1 XLBR SLC9A6 Mental/retardation,/XBlinked/syndromic,/Christianson/type XLBD SLC9A9 Autism/susceptibility Other SMARCA4 Mental/retardation,/autosomal/dominant/16 AD SMARCB1 Mental/retardation,/autosomal/dominant/15 AD SMC1A Cornelia/de/Lange/syndrome/2 AD SMC3 Cornelia/de/Lange/syndrome/3 AD SMS Mental/retardation,/XBlinked,/SnyderBRobinson/type XLBR SNRPN PraderBWilli/syndrome Other SOBP Mental/retardation,/anterior/maxillary/protrusion,/and/strabismus AR SOS1 Fibromatosis,/gingival;/Noonan/syndrome/4 AD SPRED1 Legius/syndrome AD SRPX2 Rolandic/epilepsy,/mental/retardation,/and/speech/dyspraxia XLBR ST3GAL3 Epileptic/encephalopathy,/early/infantile,/15;/Mental/retardation,/autosomal/recessive/12 AR STXBP1 Epileptic/encephalopathy,/early/infantile,/4 AD SYN1 Epilepsy,/XBlinked,/with/variable/learning/disabilities/and/behavior/disorders XLBR SYNGAP1 Mental/retardation,/autosomal/dominant/5 AD SYP Mental/retardation,/XBlinked/96 XLBD TBX1 DiGeorge/syndrome;/Tetralogy/of/Fallot;/Velocardiofacial/syndrome AD TCF4 PittBHopkins/syndrome AD TECR Mental/retardation,/autosomal/recessive/14 AR TRAPPC9 Mental/retardation,/autosomal/recessive/13 AR TSC1 Tuberous/sclerosisB1 AD TSC2 Tuberous/sclerosisB2 AD TSPAN7 Mental/retardation,/XBlinked/58 XLBR TUBA1A Lissencephaly/3 AD TUSC3 Mental/retardation,/autosomal/recessive/7 AR UBE2A Mental/retardation,/XBlinked/syndromic,/NascimentoBtype XLBR Page/4
5 UBE3A Angelman/syndrome Other UPF3B Mental/retardation,/XBlinked,/syndromic/14 XLBR VLDLR Cerebellar/hypoplasia/and/mental/retardation/with/or/without/quadrupedal/locomotion/1 AR VPS13B Cohen/syndrome AR WNT2 Autism/association Other ZC3H14 Associated/with/intellectual/disability AR ZDHHC15 Mental/retardation,/XBlinked/91 XLBR ZDHHC9 Mental/retardation,/XBlinked/syndromic,/Raymond/type XLBR ZEB2 MowatBWilson/syndrome AD ZNF407 Associated/with/intellectual/disability AD ZNF526 Associated/with/intellectual/disability AR ZNF711 Mental/retardation,/XBlinked/97 XLBR ZNF81 Mental/retardation,/XBlinked/45 XLBR FMR1***&This&next&generation&sequencing&panel&does¬&test&for&trinucleotide&repeats. Page/5
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