dnatesting.uchicago.edudnatesting.uchicago.edu/sites/default/files/epilepsy gene... · xls file ·...

Gene Gene MIM#AAAS 605378AASS 605113ABAT 137150

ABCC8 600509ABCD1 300371ACADM 607008ACADS 606885ACADSB 600301ACO2 100850ACOX1 609751ACSF3 614245ACTB 102630ACTG1 102560ACVR1 102576ACY1 104620ADAR 146920ADCK3 606980ADK 102750ADRA2B 104260ADSL 608222AFG3L2 604581AGA 613228AGTR2 300034AHI1 608894AIFM1 300169AIMP1 603605AKT2 164731AKT3 611223ALDH18A1 138250ALDH3A2 609523ALDH4A1 606811ALDH5A1 610045ALDH7A1 107323ALG1 605907ALG11 613666ALG13 300776ALG2 607905ALG3 608750ALG6 604566ALG9 606941

ALMS1 606844AMACR 604489AMER1 300647AMT 238310ANKRD11 611192AP4E1 607244ARFGEF2 605371ARG1 608313ARHGEF15 608504ARHGEF9 300429ARID1A 603024ARID1B 614556ARL13B 608922ARSA 607574

ARX 300382

ASAH1 613468ASL 608310ASNS 108370ASPA 608034ASS1 603470ASXL1 612990ATIC 601731ATN1 607462

ATP1A2 182340ATP1A3 182350

ATP6AP2 300556ATP6V0A2 611716ATP7A 300011

ATRX 300032ATXN10 611150AUH 600529AVPR2 300538

B3GALNT2 610194

B3GNT1 605517BCAP31 300398

BCKDHA 608348BCKDHB 248611BCKDK 614901BOLA3 613183

BRAF 164757BRAT1 614506BTD 609019

BUB1B 602860

C10ORF2 606075C12ORF57 615140C5ORF42 614571

CACNA1A 601011

CACNA1D 114206CACNA2D2 607082

CACNB4 601949

CASK 300172CASQ2 114251

CASR 601199

CBS 613381CC2D2A 612013CCBE1 612753CCDC88C 611204CCM2 607929CDKL5 300203

CEP290 610142CEP41 610523CHD2 602119CHKB 612395CHRNA2 118502CHRNA4 118504CHRNB2 118507CLCN1 118425

CLCN2 600570CLCN4 302910CLDN16 603959CLIC2 300138CLN3 607042CLN5 608102

CLN6 606725

CLN8 607837CLPP 601119CNTN2 190197

CNTNAP2 604569COA5 613920COG4 606976COG6 606977COG8 606979

COL4A1 120130COL4A2 120090COQ2 609825COQ9 612837

COX10 602125COX14 614478

COX15 603646COX20 614698COX6B1 124089CPA6 609562

CPS1 608307

CPT2 600650CRH 122560CRLF1 604237CSPP1 611654CSTB 601145CTC1 613129

CTSD 116840CTSF 603539CUL4B 300304CYP27A1 606530CYP27B1 609506D2HGDH 609186DBT 248610DCX 300121DEPDC5 614191DHFR 126060DMD 300377DNAJC5 611203DNM1 602377DOCK6 614194DOCK7 615730DOLK 610746DONSON 611428

DPAGT1 191350DPM1 603503DPM2 603564DPYD 612779DPYS 613326

DYNC1H1 600112DYRK1A 600855EARS2 612799ECM1 602201EEF1A2 602959

EFHC1 608815EFTUD2 603892EHMT1 607001

ELOVL4 605512EMX2 600035EPG5 615068EPM2A 607566ERLIN2 611605ERMARD 615532ETHE1 608451EXOSC3 606489FA2H 611026

FADD 602457FARS2 611592FASTKD2 612322FBXL4 605654FHL1 300163

FKRP 606596

FKTN 607440

FLNA 300017FMR1 309550FOLR1 136430FOXG1 164874FTO 610966FUCA1 612280

GABRA1 137160GABRB3 137192

GABRG2 137164GALC 606890GAMT 601240GATA3 131320

GATA6 601656GATM 602360

GBA 606463GCDH 608801

GCH1 600225

GCK 138079

GCM2 603716GCSH 238330GFAP 137780GFM1 606639GLA 300644

GLB1 611458GLDC 238300GLI2 165230

GLI3 165240GLRA1 138491GLUD1 138130GLUL 138290GLYCTK 610516GM2A 613109

GMPPB 615320GNAO1 139311GOSR2 604027GPHN 603930GPR56 604110GRIA3 305915GRIN2A 138253GRIN2B 138252

GRN 138945GTPBP3 608536HACE1 610876

HADH 601609HAX1 605998HCCS 300056

HCFC1 300019HCN1 602780HDAC8 300269HECW2 617245

HEPACAM 611642HESX1 601802

HEXA 606869HEXB 606873HGSNAT 610453HLCS 609018HMBS 609806HNRNPU 602869HPD 609695

HRAS 190020

HSD17B10 300256HSD17B4 601860HSPD1 118190IDH2 147650IER3IP1 609382IKBKAP 603722IKBKG 300248

INPP5E 613037

INS 176730

INSR 147670IQSEC2 300522

ISPD 614631ITPA 147520IVD 607036JAM3 606871JRK 603210KANSL1 612452KCNA2 176262KCNB1 600397KCNC1 176258KCNH1 603305

KCNH2 152427KCNH5 605716KCNJ10 602208

KCNJ11 600937

KCNMA1 600150KCNQ2 602235KCNQ3 602232KCNQ5 607357KCNT1 608167KCNV2 607604KCTD7 611725KDM5C 314690KDM6A 300128KIAA0226 613516KIAA1279 609367KIAA2022 300524KIF11 148760KIF2A 602591KIF4A 300521KIF5A 602821KIF5C 604593KIF7 611254KMT2D 602113KPTN 615620

KRIT1 604214

L1CAM 308840L2HGDH 609584LAMB1 150240LAMC3 604349

LARGE 603590LBR 600024LGI1 604619LIAS 607031LMBRD1 612625LRP2 600073LRPPRC 607544MAF 177075MBD5 611472MBOAT7 606048

MBTPS2 300294

MCCC1 609010MDH2 154100

MECP2 300005MED17 603810

MEF2C 600662MFF 614785MFSD8 611124MGAT2 602616MLC1 605908MLYCD 606761MMACHC 609831

MMADHC 611935MOCS1 603707MOCS2 603708MOGS 601336MPDU1 604041MPDZ 603785

MSX2 123101

MTHFR 607093

MTR 156570MUT 609058MYO5A 160777NAA10 300013NACC1 610672NAGA 104170NALCN 611549NAPB 611270NARS2 612803NAXE 608862NDE1 609449NEDD4L 606384NDP 300658NDUFA1 300078NDUFA10 603835NDUFA11 612638NDUFA12 614530

NDUFA2 602137NDUFA9 603834NDUFAF1 606934NDUFAF2 609653NDUFAF3 612911NDUFAF4 611776NDUFAF5 612360NDUFAF6 612392NDUFB3 603839NDUFS1 157655NDUFS2 602985

NDUFS3 603846NDUFS4 602694NDUFS6 603848NDUFS7 601825NDUFS8 602141NDUFV1 161015NDUFV2 600532NECAP1 611623NEU1 608272NGLY1 610661NHLRC1 608072NIN 608684NIPBL 608667

NLGN4X 300427

NOTCH3 600276NPC1 607623NPC2 601015NPHP1 607100NPRL2 607072NPRL3 600928NRXN1 600565NSD1 606681NSDHL 300275NUBPL 613621OCLN 602876OCRL 300535

OPA1 605290

OPHN1 300127OTC 300461OTUD6B 612021

OTX2 600037PAFAH1B1 601545PAH 612349PANK2 606157PARS2 612036PC 608786PCDH19 300460PDCD10 609118

PDGFB 190040

PDGFRB 173410PDHA1 300502PDHX 608769PDP1 605993PDSS2 610564PET100 614770

PEX1 602136PEX10 602859PEX11B 603867PEX12 601758PEX13 601789PEX14 601791PEX16 603360PEX19 600279PEX2 170993PEX26 608666PEX3 603164PEX5 600414PEX6 601498PEX7 601757PGAP2 615187PGAP3 611801PHF6 300414PHGDH 606879

PIGA 311770

PIGG 616918PIGL 605947PIGM 610273PIGN 606097PIGP 605938PIGV 610274PLAA 603873

PLA2G6 603604PLCB1 607120PMM2 601785PNKP 605610PNPO 603287POGZ 614787

POLG 174763

POLG2 604983

POMC 176830

POMGNT1 606822

POMGNT2 614828

POMT1 607423

POMT2 607439PPP3CA 610087PPT1 600722PRF1 170280PRICKLE1 608500PRICKLE2 608501PRMT7PROSC 604436

PRRT2 614386

PSAP 176801PSAT1 610936PTCH1 601309PTH 168450PTS 612719PURA 600473QARS 603727QDPR 612676RAB18 602207RAB27A 603868RAB39B 300774RAD21 606462RAI1 607642RARS2 611524RFT1 611908RNASEH2A 606034RNASEH2B 610326RNASEH2C 610330RNASET2 612944ROGDI 614574RORB 601972

RRM2B 604712RTTN 610436SACS 604490SAMHD1 606754SATB2 608148SCARB2 602257

SCN1A 182389

SCN1B 600235SCN2A 182390SCN3A 182391

SCN8A 600702

SCN9A 603415

SDHA 600857

SDHAF1 612848SEPSECS 613009SERPINI1 602445SETBP1 611060SHANK3 606230

SHH 600725SIK1 605705SIX3 603714SLC12A5 606726SLC12A6 604878SLC13A5 608305SLC16A1 600682SLC17A5 604322

SLC19A3 606152SLC1A1 133550SLC1A2 600300SLC1A3 600111SLC1A4 600229SLC6A1 137165SLC20A2 158378SLC25A1 190315SLC25A12 603667SLC25A15 603861SLC25A20 613698SLC25A22 609302

SLC2A1 138140SLC35A2 314375SLC45A1 605763SLC46A1 611672SLC6A8 300036SLC9A6 300231SLC9A9 608396SMARCA2 600014

SMARCA4 603254SMARCB1 601607SMARCE1 603111SMC1A 300040SMC3 606062SMS 300105

SNIP1 608241SON 182465SPATA5 613940SPTAN1 182810SRPX2 300642

ST3GAL3 606494ST3GAL5 604402STAG1 604358STAMBP 606247STRADA 608626STT3A 601134STX1B 601485STXBP1 602926

SUCLA2 603921

SUCLG1 611224SUMF1 607939SURF1 185620SYN1 313440SYNGAP1 603384SYNJ1 604297SYP 313475SZT2 615463TANGO2 616830TBC1D20 611663

TBC1D24 613577TBCD 604649TBCE 604934TBCK 616899

TBX1 602054TCF4 602272TCTN1 609863TCTN3 613847TIMM50 607381TK2 188250TMEM138 614459TMEM216 613277TMEM231 614949TMEM237 614423

TMEM5 605862TMTC3 617218TPP1 607998TRAPPC12 614139TREM2 605086

TREX1 606609TRIT1TRPM6 607009

TSC1 605284TSC2 191092TSEN2 608753TSEN54 608755

TTR 176300TUBA1A 602529TUBA8 605742TUBB2A 615101TUBB2B 612850

TUBB3 602661TUBG1 191135TYROBP 604142

UBA5 610552UBE2A 312180UBE3A 601623UNC80 612636UPB1 606673VPS13A 605978VPS53 615850WDR26 617424WDR45 300526WDR62 613583

WFS1 606201WWOX 605131XK 314850YWHAG 605356ZBTB18 608433

ZC4H2 300897ZDHHC9 300646ZEB2 605802ZNF423 604557

OMIM PhenotypeAchalasia-addisonianism-alacrimia syndrome;Hyperlysinemia;Saccharopinuria;GABA-transaminase deficiency;

Adrenoleukodystrophy;Adrenomyeloneuropathy, adult;Acyl-CoA dehydrogenase, medium chain, deficiency of;Acyl-CoA dehydrogenase, short-chain, deficiency of;2-methylbutyrylglycinuria;Infantile cerebellar-retinal degeneration;Peroxisomal acyl-CoA oxidase deficiency;Combined malonic and methylmalonic aciduria;Baraitser-Winter syndrome 1;Dystonia, juvenile-onset;Baraitser-Winter syndrome 2;Deafness, autosomal dominant 2/26;Fibrodysplasia ossificans progressiva;Aminoacylase 1 deficiency;Aicardi-Goutieres syndrome 6;Dyschromatosis symmetrica hereditaria;Coenzyme Q10 deficiency, primary, 4;Hypermethioninemia due to adenosine kinase deficiency;Autosomal dominant cortical myoclonus and epilepsy (ADCME)Adenylosuccinase deficiency;Ataxia, spastic, 5, autosomal recessive;Spinocerebellar ataxia 28;Aspartylglucosaminuria;Mental retardation, pervasive developmental delay, and epilepsyJoubert syndrome-3;Combined oxidative phosphorylation deficiency 6;Cowchock syndrome;Leukodystrophy, hypomyelinating, 3;Diabetes mellitus, type II;Hypoinsulinemic hypoglycemia with hemihypertrophy;Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome;Cutis laxa, autosomal recessive, type IIIA;Sjogren-Larsson syndrome;Hyperprolinemia, type II;Succinic semialdehyde dehydrogenase deficiency;Epilepsy, pyridoxine-dependent;Congenital disorder of glycosylation, type Ik;Congenital disorder of glycosylation, type Ip;Congenital disorder of glycosylation, type Is;Congenital disorder of glycosylation, type Ii;Congenital disorder of glycosylation, type Id;Congenital disorder of glycosylation, type Ic;Congenital disorder of glycosylation, type Il;

Diabetes mellitus, noninsulin-dependent;Diabetes mellitus, permanent neonatal;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1;Hypoglycemia of infancy, leucine-sensitive;

Alstrom syndrome;Alpha-methylacyl-CoA racemase deficiency;Bile acid synthesis defect, congenital, 4;Osteopathia striata with cranial sclerosis;Glycine encephalopathy;KBG syndrome;Spastic paraplegia 51, autosomal recessive;Periventricular heterotopia with microcephaly;Argininemia;

Epileptic encephalopathy, early infantile, 8;Mental retardation, autosomal dominant 14;Mental retardation, autosomal dominant 12;Joubert syndrome 8;Metachromatic leukodystrophy;

Farber lipogranulomatosis;Spinal muscular atrophy with progressive myoclonic epilepsy;Argininosuccinic aciduria;Asparagine synthetase deficiency;Canavan disease;Citrullinemia;Bohring-Opitz syndrome;Myelodysplastic syndrome, somatic;AICA-ribosiduria due to ATIC deficiency;Dentatorubro-pallidoluysian atrophy;

Alternating hemiplegia of childhood;Migraine, familial basilar;Migraine, familial hemiplegic, 2;Alternating hemiplegia of childhood 2;Dystonia-12;

?Mental retardation, X-linked, syndromic, Hedera type;?Parkinsonism with spasticity, X-linked;Cutis laxa, autosomal recessive, type IIA;Wrinkly skin syndrome;Menkes disease;Occipital horn syndrome;Spinal muscular atrophy, distal, X-linked 3;

Spinocerebellar ataxia 10;3-methylglutaconic aciduria, type I;Diabetes insipidus, nephrogenic;Nephrogenic syndrome of inappropriate antidiuresis;

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11;

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13;Deafness, dystonia, and cerebral hypomyelination;

Epileptic encephalopathy, early infantile, 1;Hydranencephaly with abnormal genitalia;Lissencephaly, X-linked 2;Mental retardation, X-linked 29 and others;Partington syndrome;Proud syndrome;

Alpha-thalassemia myelodysplasia syndrome, somatic;Alpha-thalassemia/mental retardation syndrome;Mental retardation-hypotonic facies syndrome, X-linked;

Maple syrup urine disease, type Ia;Maple syrup urine disease, type Ib;Branched-chain ketoacid dehydrogenase kinase deficiency;Multiple mitochondrial dysfunctions syndrome 2;

Rigidity and multifocal seizure syndrome, lethal neonatal;Biotinidase deficiency;

Temtamy syndrome;Joubert syndrome 17;

Early Infantile Epileptic Encephalopathy

Ventricular tachycardia, catecholaminergic polymorphic, 2;

Homocystinuria, B6-responsive and nonresponsive types;Thrombosis, hyperhomocysteinemic;COACH syndrome;Joubert syndrome 9;Meckel syndrome 6;Hennekam lymphangiectasia-lymphedema syndrome;Hydrocephalus, nonsyndromic, autosomal recessive;Cerebral cavernous malformations-2;Angelman syndrome-like;Epileptic encephalopathy, early infantile, 2;

Joubert syndrome 15;Epileptic encephalopathy, childhood-onset;Muscular dystrophy, congenital, megaconial type;Epilepsy, nocturnal frontal lobe, type 4;Epilepsy, nocturnal frontal lobe, 1;{Nicotine addiction, susceptibility to};Epilepsy, nocturnal frontal lobe, 3;Myotonia congenita, dominant;Myotonia congenita, recessive;

Adenocarcinoma of lung, somatic;Cardiofaciocutaneous syndrome;Colorectal cancer, somatic;LEOPARD syndrome 3;Nonsmall cell lung cancer, somatic;Noonan syndrome 7;

Colorectal cancer, somatic;Mosaic variegated aneuploidy syndrome 1;[Premature chromatid separation trait];

Mitochondrial DNA depletion syndrome 7 (hepatocerebral type);Progressive external ophthalmoplegia, autosomal dominant, 3;

Migraine, familial hemiplegic, 1;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia

Primary aldosteronism, seizures, and neurologic abnormalities;Sinoatrial node dysfunction and deafness;

Episodic ataxia, type 5;{Epilepsy, idiopathic generalized, susceptibility to, 9};{Epilepsy, juvenile myoclonic, susceptibility to, 6};

FG syndrome 4;Mental retardation and microcephaly with pontine and cerebellar hypoplasia;Mental retardation, with or without nystagmus;

Hyperparathyroidism, neonatal;Hypocalcemia, autosomal dominant;Hypocalcemia, autosomal dominant, with Bartter syndrome;Hypocalciuric hypercalcemia, type I;{Epilepsy idiopathic generalized, susceptibility to, 8};

Bardet-Biedl syndrome 14;Joubert syndrome 5;Leber congenital amaurosis 1;Meckel syndrome 4;Senior-Loken syndrome 6;

Epileptic encephalopathyHypomagnesemia 3, renal;Mental retardation, X-linked, syndromic 32;Ceroid lipofuscinosis, neuronal, 3;Ceroid lipofuscinosis, neuronal, 5;

Ceroid lipofuscinosis, neuronal, 6;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset;

Ceroid lipofuscinosis, neuronal, 8;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant;Perrault syndrome 3;?Epilepsy, familial adult myoclonic, 5;

Mitochondrial complex IV deficiency;Congenital disorder of glycosylation, type IIj;Congenital disorder of glycosylation, type IIl;Shaheen syndrome;Congenital disorder of glycosylation, type IIh;

Porencephaly 2;{Hemorrhage, intracerebral, susceptibility to};Coenzyme Q10 deficiency, primary, 1;{Multiple system atrophy, susceptibility to};Coenzyme Q10 deficiency, primary, 5;

Leigh syndrome due to mitochondrial COX4 deficiency;Mitochondrial complex IV deficiency;Mitochondrial complex IV deficiency;

Mitochondrial complex IV deficiency;?Cytochrome c oxidase deficiency;Epilepsy, familial temporal lobe, 5;Febrile seizures, familial, 11;

Cold-induced sweating syndrome;Joubert syndrome 21;Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg);Cerebroretinal microangiopathy with calcifications and cysts;

Leukoencephalopathy with ataxia;{Epilepsy, idiopathic generalized, susceptibility to, 11};{Epilepsy, juvenile absence, susceptibility to, 2};{Epilepsy, juvenile myoclonic, susceptibility to, 8};

Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1;{Autism susceptibility 15};

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle;Brain small vessel disease with Axenfeld-Rieger anomaly;Brain small vessel disease with hemorrhage;Porencephaly 1;{Hemorrhage, intracerebral, susceptibility to};

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2;Leigh syndrome due to cytochrome c oxidase deficiency;

Carbamoylphosphate synthetase I deficiency;{Pulmonary hypertension, neonatal, susceptibility to};

CPT deficiency, hepatic, type II;CPT II deficiency, lethal neonatal;Myopathy due to CPT II deficiency;{Encephalopathy, acute, infection-induced, 4, susceptibility to};

Ceroid lipofuscinosis, neuronal, 10;Ceroid lipofuscinosis, neuronal, 13, Kufs type;Mental retardation, X-linked, syndromic 15 (Cabezas type);Cerebrotendinous xanthomatosis;Vitamin D-dependent rickets, type I;D-2-hydroxyglutaric aciduria;Maple syrup urine disease, type II;Lissencephaly, X-linked;Subcortical laminal heteropia, X-linked;Epilepsy, familial focal, with variable foci;Megaloblastic anemia due to dihydrofolate reductase deficiency;Becker muscular dystrophy;Cardiomyopathy, dilated, 3B;Duchenne muscular dystrophy;Ceroid lipofuscinosis, neuronal, 4, Parry type;Early infantile epileptic encephalopathy-31Adams-Oliver syndrome 2;" Epileptic encephalopathy, early infantile, 23"Congenital disorder of glycosylation, type Im;Microcephaly, short stature, and limb abnormalities; Microcephaly-micromelia syndrome

Congenital disorder of glycosylation, type Ie;Congenital disorder of glycosylation, type Iu;5-fluorouracil toxicity;Dihydropyrimidine dehydrogenase deficiency;Dihydropyrimidinuria;

Mental retardation, autosomal dominant 7;Combined oxidative phosphorylation deficiency 12;Urbach-Wiethe disease;Epileptic encephalopathy

Mandibulofacial dysostosis, Guion-Almeida type;Kleefstra syndrome;

Schizencephaly;Vici syndrome;Epilepsy, progressive myoclonic 2A (Lafora);Spastic paraplegia 18, autosomal recessive;?Periventricular nodular heterotopia 6;Ethylmalonic encephalopathy;Pontocerebellar hypoplasia, type 1B;Spastic paraplegia 35, autosomal recessive;

Congenital disorder of glycosylation, type Ij;Myasthenic syndrome, congenital, with tubular aggregates 2;

Charcot-Marie-Tooth disease, axonal, type 20;Mental retardation, autosomal dominant 13;Spinal muscular atrophy, lower extremity-predominant, AD;

{Epilepsy, juvenile absence, susceptibility to, 1};{Myoclonic epilepsy, juvenile, susceptibility to, 1};

Ichthyosis, spastic quadriplegia, and mental retardation;Macular dystrophy, autosomal dominant, chromosome 6-linked;Stargardt disease 3;

Combined oxidative phosphorylation deficiency 14;?Mitochondrial complex IV deficiency;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type);Isolated familial hypoparathyroidism

Fragile X syndrome;Fragile X tremor/ataxia syndrome;Premature ovarian failure 1;Neurodegeneration due to cerebral folate transport deficiency;Rett syndrome, congenital variant;Growth retardation, developmental delay, coarse facies, and early death;Fucosidosis;

{Epilepsy, childhood absence, susceptibility to, 5};

Krabbe disease;Cerebral creatine deficiency syndrome 2;Hypoparathyroidism, sensorineural deafness, and renal dysplasia;

Cerebral creatine deficiency

Glutaricaciduria, type I;

Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations;

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5;

Cardiomyopathy, dilated, 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4;

Cardiac valvular dysplasia, X-linked;Congenital short bowel syndrome;FG syndrome 2;Frontometaphyseal dysplasia;Heterotopia, periventricular;Heterotopia, periventricular, ED variant;Intestinal pseudoobstruction, neuronal;Melnick-Needles syndrome;Otopalatodigital syndrome, type I;Otopalatodigital syndrome, type II;Terminal osseous dysplasia;

{Epilepsy, childhood absence, susceptibility to, 4};{Epilepsy, juvenile myoclonic, susceptibility to, 5};

Epilepsy, generalized, with febrile seizures plus, type 3;Febrile seizures, familial, 8;{Epilepsy, childhood absence, susceptibility to, 2};

Atrial septal defect 9;Atrioventricular septal defect 5;Pancreatic agenesis and congenital heart defects;Persistent truncus arteriosus;Tetralogy of Fallot;

Gaucher disease, perinatal lethal;Gaucher disease, type I;Gaucher disease, type II;Gaucher disease, type III;Gaucher disease, type IIIC;{Lewy body dementia, susceptibility to};{Parkinson disease, late-onset, susceptibility to};

Dystonia, DOPA-responsive, with or without hyperphenylalaninemia;Hyperphenylalaninemia, BH4-deficient, B;

Diabetes mellitus, gestational;Diabetes mellitus, noninsulin-dependent, late onset;Diabetes mellitus, permanent neonatal;Hyperinsulinemic hypoglycemia, familial, 3;MODY, type II;

Hypoparathyroidism, familial isolated;Glycine encephalopathy;Alexander disease;Combined oxidative phosphorylation deficiency 1;Fabry disease;Fabry disease, cardiac variant;

Glycine encephalopathy;Holoprosencephaly-9; #615849 CULLER-JONES SYNDROME; CJS

Hyperekplexia, hereditary 1, autosomal dominant or recessive;Hyperinsulinism-hyperammonemia syndrome;Glutamine deficiency, congenital;D-glyceric aciduria;GM2-gangliosidosis, AB variant;

Epileptic encephalopathy, early infantile, 17;Epilepsy, progressive myoclonic 6;Molybdenum cofactor deficiency C;Polymicrogyria, bilateral frontoparietal;Mental retardation, X-linked 94;Epilepsy, focal, with speech disorder and with or without mental retardation;Early epileptic encephalopathy/West syndrome

"Combined oxidative phosphorylation deficiency 23"Spastic paraplegia and psychomotor retardation with or without seizures

3-hydroxyacyl-CoA dehydrogenase deficiency;Hyperinsulinemic hypoglycemia, familial, 4;Neutropenia, severe congenital 3, autosomal recessive;Linear skin defects with multiple congenital anomalies 1

Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type );"Epileptic encephalopathy, early infantile, 24"Cornelia de Lange syndrome 5Neurodevelopmental disorder with hypotonia, seizures, and absent language

Septooptic dysplasia;

GM1-gangliosidosis, type I;GM1-gangliosidosis, type II;GM1-gangliosidosis, type III;Mucopolysaccharidosis type IVB (Morquio);

Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly, postaxial, types A1 and B;Polydactyly, preaxial, type IV;{Hypothalamic hamartomas, somatic};

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14;

Aphasia, primary progressive;Ceroid lipofuscinosis, neuronal, 11;Frontotemporal lobar degeneration with ubiquitin-positive inclusions;

Megalencephalic leukoencephalopathy with subcortical cysts 2A;Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental ret;

GM2-gangliosidosis, several forms;Tay-Sachs disease;[Hex A pseudodeficiency];Sandhoff disease, infantile, juvenile, and adult forms;Mucopolysaccharidosis type IIIC (Sanfilippo C);Holocarboxylase synthetase deficiency;Porphyria, acute intermittent;Porphyria, acute intermittent, nonerythroid variant;Epileptic encephalopathy; Intellectual disabilities, CNS anomalies and seizuresHawkinsinuria;Tyrosinemia, type III;

D-bifunctional protein deficiency;Perrault syndrome 1;Leukodystrophy, hypomyelinating, 4;Spastic paraplegia 13, autosomal dominant;D-2-hydroxyglutaric aciduria 2;Microcephaly, epilepsy, and diabetes syndrome;Dysautonomia, familial;Ectodermal dysplasia, hypohidrotic, with immune deficiency; Ectodermal, dysplasia, anhidroti

Joubert syndrome 1;Mental retardation, truncal obesity, retinal dystrophy, and micropenis;

Mental retardation, X-linked 1;

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Epileptic encephalopathy, early infantile, 35; Inosine triphosphatase deficiencyIsovaleric acidemia;Hemorrhagic destruction of the brain, subependymal calcification, and cataracts;Childhood absence epilepsyKoolen-De Vries syndrome;Epileptic encephalopathyEarly onset epileptic encephalopathy"Epilepsy, progressive myoclonic 7""Temple-Baraitser syndrome"

Long QT syndrome 2;Short QT syndrome 1;{Long QT syndrome 2, acquired, susceptibility to};Epileptic encephalopathyEnlarged vestibular aqueduct, digenic;SESAME syndrome;

Congenital myopathy with excess of muscle spindles;Costello syndrome;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic;{Bladder cancer, somatic};{Nevus sebaceous, somatic};{Thyroid carcinoma, follicular, somatic};

17-beta-hydroxysteroid dehydrogenase X deficiency;Mental retardation, X-linked 17/31, microduplication;Mental retardation, X-linked syndromic 10;

Diabetes mellitus, insulin-dependent, 2;Diabetes mellitus, permanent neonatal;Diabetes mellitus, type 1;Maturity-onset diabetes of the young, type 10;

Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Hyperinsulinemic hypoglycemia, familial, 5;Leprechaunism;Rabson-Mendenhall syndrome;

Diabetes mellitus, permanent neonatal, with neurologic features;Diabetes mellitus, transient neonatal, 3;Diabetes, permanent neonatal;Hyperinsulinemic hypoglycemia, familial, 2;{Diabetes mellitus, type 2, susceptibility to};

Generalized epilepsy and paroxysmal dyskinesia;Epileptic encephalopathy, early infantile, 7;Myokymia;Seizures, benign neonatal, 1;Seizures, benign neonatal, type 2;Mental retardation, autosomal dominant 46Epilepsy, nocturnal frontal lobe, 5;Epileptic encephalopathy, early infantile, 14;Retinal cone dystrophy 3B;Epilepsy, progressive myoclonic 3, with or without intracellular inclusions;Mental retardation, X-linked, syndromic, Claes-Jensen type;Kabuki syndrome 2;?Spinocerebellar ataxia, autosomal recessive 15;Goldberg-Shprintzen megacolon syndrome;Mental retardation, X-linked 98;Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation;Cortical dysplasia, complex, with other brain malformations 3;"Mental retardation, X-linked 100"Myoclonus, intractable, neonatal?Cortical dysplasia, complex, with other brain malformations 2;Acrocallosal syndrome;Hydrolethalus syndrome 2;Joubert syndrome 12;Kabuki syndrome 1;Mental retardation, autosomal recessive 41;

L-2-hydroxyglutaric aciduria;Lissencephaly 5;Cortical malformations, occipital;

?Reynolds syndrome;Greenberg skeletal dysplasia;Pelger-Huet anomaly;Epilepsy, familial temporal lobe, 1;Pyruvate dehydrogenase lipoic acid synthetase deficiency;Methylmalonic aciduria and homocystinuria, cblF type;Donnai-Barrow syndrome;Leigh syndrome, French-Canadian type;Ayme-Gripp syndromeMental retardation, autosomal dominant 1;Mental retardation, autosomal recessive 57

Cavernous malformations of CNS and retina;Cerebral cavernous malformations-1;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformat;

Corpus callosum, partial agenesis of;CRASH syndrome;Hydrocephalus due to aqueductal stenosis;Hydrocephalus with congenital idiopathic intestinal pseudoobstruction;Hydrocephalus with Hirschsprung disease;MASA syndrome;

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6;

IFAP syndrome with or without BRESHECK syndrome;Keratosis follicularis spinulosa decalvans, X-linked;

3-Methylcrotonyl-CoA carboxylase 1 deficiency;Epileptic encephalopathy, early infantile, 51

Microcephaly, postnatal progressive, with seizures and brain atrophy;

Encephalopathy due to defective mitochondrial and peroxisomal fission 2Ceroid lipofuscinosis, neuronal, 7;Congenital disorder of glycosylation, type IIa;Megalencephalic leukoencephalopathy with subcortical cysts;Malonyl-CoA decarboxylase deficiency;Methylmalonic aciduria and homocystinuria, cblC type;

Molybdenum cofactor deficiency A;Molybdenum cofactor deficiency B;Congenital disorder of glycosylation, type IIb;Congenital disorder of glycosylation, type If;Hydrocephalus, nonsyndromic, autosomal recessive 2;

Craniosynostosis, type 2;Parietal foramina 1;Parietal foramina with cleidocranial dysplasia;

Methylmalonic aciduria, mut() type;Griscelli syndrome, type 1;?Microphthalmia, syndrome 1;N-terminal acetyltransferase deficiency;

Kanzaki disease;Schindler disease, type I;Schindler disease, type III;Neuroaxonal neurodegeneration, infantile, with facial dysmophism;Early onset epileptic encephalopathy (PMID: 26235277)Combined oxidative phosphorylation deficiency 24Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy?Microhydranencephaly;Lissencephaly 4 (with microcephaly);Periventricular nodular heterotopia 7Exudative vitreoretinopathy, X-linked;Norrie disease;Mitochondrial complex I deficiency;Leigh syndrome;Mitochondrial complex I deficiency;Leigh syndrome due to mitochondrial complex 1 deficiency;

Angelman syndrome;Encephalopathy, neonatal severe;Mental retardation, X-linked syndromic, Lubs type;Mental retardation, X-linked, syndromic 13;Rett syndrome;Rett syndrome, preserved speech variant;{Autism susceptibility, X-linked 3};

Chromosome 5q14.3 deletion syndrome;Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;

Homocystinuria, cblD type, variant 1;Methylmalonic aciduria and homocystinuria, cblD type;Methylmalonic aciduria, cblD type, variant 2;

Homocystinuria due to MTHFR deficiency;{Neural tube defects, susceptibility to};{Schizophrenia, susceptibility to};{Thromboembolism, susceptibility to};

Homocystinuria-megaloblastic anemia, cblG complementation type;{Neural tube defects, folate-sensitive, susceptibility to};

Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Leigh syndrome due to mitochondrial complex I deficiency;Leigh syndrome due to mitochondrial complex I deficiency;Mitochondrial complex I deficiency;Leigh syndrome;Mitochondrial complex I deficiency;Mitochondrial complex I deficiency;Mitochondrial complex I deficiency;Mitochondrial complex 1 deficiency;Leigh syndrome due to mitochondrial complex I deficiency;Mitochondrial complex I deficiency;Mitochondrial complex I deficiency;Mitochondrial complex I deficiency;

Leigh syndrome due to mitochondrial complex I deficiency;Mitochondrial complex I deficiency;Leigh syndrome;Mitochondrial complex I deficiency;Complex I, mitochondrial respiratory chain, deficiency of;Leigh syndrome;Leigh syndrome due to mitochondrial complex I deficiency;Mitochondrial complex I deficiency;Mitochondrial complex I deficiency;Early infantile epileptic encephalopathy-21Sialidosis, type I;Sialidosis, type II;?Congenital disorder of glycosylation, type Iv;Epilepsy, progressive myoclonic 2B (Lafora);Seckel syndrome 7;Cornelia de Lange syndrome 1;

Niemann-Pick disease, type C1;Niemann-Pick disease, type D;Niemann-pick disease, type C2;Joubert syndrome 4;Nephronophthisis 1, juvenile;Senior-Loken syndrome-1;Epilepsy, familial focal, with variable foci 2Epilepsy, familial focal, with variable foci 3Pitt-Hopkins-like syndrome 2;{Schizophrenia, susceptibility to, 17};Beckwith-Wiedemann syndrome;Leukemia, acute myeloid;Sotos syndrome 1;CHILD syndrome;CK syndrome;Mitochondrial complex I deficiency;Band-like calcification with simplified gyration and polymicrogyria;Dent disease 2;Lowe syndrome;

Optic atrophy 1;Optic atrophy plus syndrome;{Glaucoma, normal tension, susceptibility to};

Mental retardation, X-linked;{Asperger syndrome susceptibility, X-linked 2};{Autism susceptibility, X-linked 2};

Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1; Lateral meningocele syndrome; ?Myofibromatosis, infantile 2

Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance;Ornithine transcarbamylase deficiency;Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

Lissencephaly 1;Subcortical laminar heterotopia;Phenylketonuria;[Hyperphenylalaninemia, non-PKU mild];HARP syndrome;Neurodegeneration with brain iron accumulation 1;

Pyruvate carboxylase deficiency;Epileptic encephalopathy, early infantile, 9;Cerebral cavernous malformations 3;

Leigh syndrome, X-linked;Pyruvate dehydrogenase E1-alpha deficiency;Lacticacidemia due to PDX1 deficiency;Pyruvate dehydrogenase phosphatase deficiency;Coenzyme Q10 deficiency, primary, 3;Mitochondrial complex IV deficiency;

Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 1B (NALD/IRD);Peroxisome biogenesis disorder 6A (Zellweger);Peroxisome biogenesis disorder 6B;Peroxisome biogenesis disorder 14B;Peroxisome biogenesis disorder 3A (Zellweger);Peroxisome biogenesis disorder 3B;Peroxisome biogenesis disorder 11A (Zellweger);Peroxisome biogenesis disorder 11B;Peroxisome biogenesis disorder 13A (Zellweger);Peroxisome biogenesis disorder 8A, (Zellweger);Peroxisome biogenesis disorder 8B;Peroxisome biogenesis disorder 12A (Zellweger);Peroxisome biogenesis disorder 5A (Zellweger);Peroxisome biogenesis disorder 5B;Peroxisome biogenesis disorder 7A (Zellweger);Peroxisome biogenesis disorder 7B;Peroxisome biogenesis disorder 1A (Zellweger);Peroxisome biogenesis disorder 2A (Zellweger);Peroxisome biogenesis disorder 2B;Peroxisome biogenesis disorder 4A (Zellweger);Peroxisome biogenesis disorder 4B;Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata, type 1;Hyperphosphatasia with mental retardation syndrome 3;Hyperphosphatasia with memtal retardation syndrome 4;Borjeson-Forssman-Lehmann syndrome;Phosphoglycerate dehydrogenase deficiency;

Microphthalmia, syndromic 5;Pituitary hormone deficiency, combined, 6;Retinal dystrophy, early-onset, and pituitary dysfunction;

Infantile-onset developmental delay/regression and epilepsy (PMID: 28077841)

Basal ganglia calcification, idiopathic, 5;Dermatofibrosarcoma protuberans;Meningioma, SIS-related;

Basal ganglia calcification, idiopathic, 4;Myeloproliferative disorder with eosinophilia;Myofibromatosis, infantile, 1;

Multiple congenital anomalies-hypotonia-seizures syndrome 2;Paroxysmal nocturnal hemoglobinuria, somatic;

Mental retardation, autosomal recessive 53CHIME syndrome;Glycosylphosphatidylinositol deficiency;Multiple congenital anomalies-hypotonia-seizures syndrome 1;?Epileptic encephalopathy, early infantile, 55Hyperphosphatasia with mental retardation syndrome 1;Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

Epileptic encephalopathy, early infantile, 12;Congenital disorder of glycosylation, type Ia;Epileptic encephalopathy, early infantile, 10;Pyridoxamine 5-prime-phosphate oxidase deficiencyWhite-Sutton syndrome

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8;

Short stature, brachydactyly, intellectual developmental disability, and seizuresCeroid lipofuscinosis, neuronal, 1;Hemophagocytic lymphohistiocytosis, familial, 2;Lymphoma, non-Hodgkin;Epilepsy, progressive myoclonic 1B;Epilepsy, progressive myoclonic 5;

Epilepsy, early-onset, vitamin B6-dependent

Infantile neuroaxonal dystrophy 1;Neurodegeneration with brain iron accumulation 2B;Parkinson disease 14;

Mitochondrial DNA depletion syndrome 4A (Alpers type);Mitochondrial DNA depletion syndrome 4B (MNGIE type);Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE);Progressive external ophthalmoplegia, autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive;

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4;

Obesity, adrenal insufficiency, and red hair due to POMC deficiency;{Obesity, early-onset, susceptibility to};




Convulsions, familial infantile, with paroxysmal choreoathetosis;Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2;

Phosphoserine aminotransferase deficiency;Basal cell carcinoma, somatic;Basal cell nevus syndrome;Holoprosencephaly-7;Hypoparathyroidism, autosomal dominant;Hypoparathyroidism, autosomal recessive;Hyperphenylalaninemia, BH4-deficient, A;"Mental retardation, autosomal dominant 31""Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy"Hyperphenylalaninemia, BH4-deficient, C;Warburg micro syndrome 3;Griscelli syndrome, type 2;Mental retardation, X-linked 72;Cornelia de Lange syndrome 4;Smith-Magenis syndrome;Pontocerebellar hypoplasia, type 6;Congenital disorder of glycosylation, type In;Aicardi-Goutieres syndrome 4;Aicardi-Goutieres syndrome 2;Aicardi-Goutieres syndrome 3;Leukoencephalopathy, cystic, without megalencephaly;Kohlschutter-Tonz syndrome;Epilepsy and intellectual disability (PMID: 24355400)

Polymicrogyria with seizures;Spastic ataxia, Charlevoix-Saguenay typeAicardi-Goutieres syndrome 5;Chilblain lupus 2;Glass syndrome;Epilepsy, progressive myoclonic 4, with or without renal failure;

Epileptic encephalopathy, early infantile, 11;Seizures, benign familial infantile, 3;Pediatric partial epilepsy; focal epilepsy

Combined SAP deficiency;Gaucher disease, atypical;Krabbe disease, atypical;Metachromatic leukodystrophy due to SAP-b deficiency;

Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy);Mitochondrial DNA depletion syndrome 8B (MNGIE type);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5;

Dravet syndrome;Epilepsy, generalized, with febrile seizures plus, type 2;Febrile seizures, familial, 3A;Migraine, familial hemiplegic, 3;

Atrial fibrillation, familial, 13;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1;

Cognitive impairment with or without cerebellar ataxia;Epileptic encephalopathy, early infantile, 13;

Epilepsy, generalized, with febrile seizures plus, type 7;Erythermalgia, primary;Febrile seizures, familial, 3B;Insensitivity to pain, channelopathy-associated;Paroxysmal extreme pain disorder;Small fiber neuropathy;{Dravet syndrome, modifier of};

Cardiomyopathy, dilated, 1GG;Leigh syndrome;Mitochondrial respiratory chain complex II deficiency;Paragangliomas 5;

Mitochondrial complex II deficiency;Pontocerebellar hypoplasia type 2D;Encephalopathy, familial, with neuroserpin inclusion bodies;Schinzel-Giedion midface retraction syndrome;Phelan-McDermid syndrome;{Schizophrenia 15};

Epileptic encephalopathy, early infantile, 30Holoprosencephaly-2;Schizensephaly;Epileptic encephalopathy, early infantile, 34Agenesis of the corpus callosum with peripheral neuropathy;"Epileptic encephalopathy, early infantile, 25"Erythrocyte lactate transporter defect;Hyperinsulinemic hypoglycemia, familial, 7;Salla disease;Sialic acid storage disorder, infantile;

Dicarboxylic aminoaciduriaEpileptic encephalopathy, early infantile, 41Episodic ataxia, type 6;Spastic tetraplegia, thin corpus callosum, and progressive microcephalyMyoclonic-atonic epilepsyBasal ganglia cancification, idiopathic, 1;Combined D-2- and L-2-hydroxyglutaric aciduria;Hypomyelination, global cerebral;Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome;Carnitine-acylcarnitine translocase deficiency;Epileptic encephalopathy, early infantile, 3;

Congenital disorder of glycosylation, type IIm;Intellectual developmental disorder with neuropsychiatric featuresFolate malabsorption, hereditary;Cerebral creatine deficiency syndrome 1;Mental retardation, X-linked syndromic, Christianson type;?{Autism susceptibility 16};Nicolaides-Baraitser syndrome;

Mental retardation, autosomal dominant 16;Rhabdoid tumor predisposition syndrome 2;Mental retardation, autosomal dominant 15{Meningioma, familial, susceptibility to};Cornelia de Lange syndrome 2;Cornelia de Lange syndrome 3;Mental retardation, X-linked, Snyder-Robinson type;

Holoprosencephaly-3;Microphthalmia with coloboma 5;Schizencephaly;Single median maxillary central incisor;

Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2);

Dystonia 9;GLUT1 deficiency syndrome 1;GLUT1 deficiency syndrome 2;{Epilepsy, idiopathic generalized, suscpetibility to, 12};

Psychomotor retardation, epilepsy, and craniofacial dysmorphism;ZTTK syndromeEpilepsy, hearing loss, and mental retardation syndromeEpileptic encephalopathy, early infantile, 5;Rolandic epilepsy, mental retardation, and speech dyspraxia;

Epileptic encephalopathy, early infantile, 15;Mental retardation, autosomal recessive 12;Amish infantile epilepsy syndrome;Intellectual disability, microcephaly and epilepsy (PMID: 28119487)Microcephaly-capillary malformation syndrome;Polyhydramnios, megalencephaly, and symptomatic epilepsy;?Congenital disorder of glycosylation, type Iw"Generalized epilepsy with febrile seizures plus, type 9"Epileptic encephalopathy, early infantile, 4;

Multiple sulfatase deficiency;Leigh syndrome, due to COX deficiency;Epilepsy, X-linked, with variable learning disabilities and behavior disorders;Mental retardation, autosomal dominant 5;Epileptic encephalopathy, early infantile, 53; Parkinson disease 20, early-onsetMental retardation, X-linked 96;Epileptic encephalopathy, early infantile, 18;Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, aWarburg micro syndrome 4;

Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosumHypoparathyroidism-retardation-dysmorphism syndrome;Kenny-Caffey syndrome-1;Hypotonia, infantile, with psychomotor retardation and characteristic facies 3

Pitt-Hopkins syndrome;Joubert syndrome 13;Joubert syndrome 18;Orofaciodigital syndrome IV;3-methylglutaconic aciduria, type IXMitochondrial DNA depletion syndrome 2 (myopathic type);Joubert syndrome 16;Joubert syndrome 2;Meckel syndrome 2;Joubert syndrome 2;Meckel syndrome, type 11;Joubert syndrome 14;

Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria);

Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria);

Deafness , autosomal recessive 86;DOOR syndrome;Epileptic encephalopathy, early infantile, 16;Myoclonic epilepsy, infantile, familial;

Conotruncal anomaly face syndrome;DiGeorge syndrome;Tetralogy of Fallot;Velocardiofacial syndrome;

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1;Lissencephaly 8Ceroid lipofuscinosis, neuronal, 2;Spinocerebellar ataxia, autosomal recessive 7;Encephalopathy, progressive, early-onset, with brain atrophy and spasticityNasu-Hakola disease;

Microcephaly, developmental delay, and epilepsyHypomagnesemia 1, intestinal;

Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2;Pontocerebellar hypoplasia type 2B;Pontocerebellar hypoplasia type 2A;Pontocerebellar hypoplasia type 4;

Lissencephaly 3;Polymicrogyria with optic nerve hypoplasia;"Cortical dysplasia, complex, with other brain malformations 5 "Polymicrogyria, symmetric or asymmetric;

Cortical dysplasia, complex, with other brain malformations 4;Nasu-Hakola disease;

Epileptic encephalopathy, early infantile, 44; ?Spinocerebellar ataxia, autosomal recessive 24Mental retardation, X-linked syndromic, Nascimento-type;Angelman syndrome;Hypotonia, infantile, with psychomotor retardation and characteristic facies 2Beta-ureidopropionase deficiency;Choreoacanthocytosis;Pontocerebellar hypoplasia, type 2ESkraban-Deardorff syndromeNeurodegeneration with brain iron accululation 5;Microcephaly 2, primary, autosomal recessive, with or without cortical malformations;

Early infantile epileptic encephalopathy-28McLeod syndrome with or without chronic granulomatous disease;Epileptic encephalopathy, early infantile, 56?Mental retardation, autosomal dominant 22;

Aicardi-Goutieres syndrome 1, dominant and recessive;Chilblain lupus;Vasculopathy, retinal, with cerebral leukodystrophy;{Systemic lupus erythematosus, susceptibility to};

Focal cortical dysplasia, Taylor balloon cell type;Lymphangioleiomyomatosis;Tuberous sclerosis-1;

Amyloidosis, hereditary, transthyretin-related;Carpal tunnel syndrome, familial;[Dystransthyretinemic hyperthyroxinemia];

Cortical dysplasia, complex, with other brain malformations 1;Fibrosis of extraocular muscles, congenital, 3A;

?Cataract 41;Deafness, autosomal dominant 6/14/38;Wolfram syndrome;Wolfram-like syndrome, autosomal dominant;{Diabetes mellitus, noninsulin-dependent, association with};

Wieacker-Wolf syndrome;Mental retardation, X-linked syndromic, Raymond type;Mowat-Wilson syndrome;Joubert syndrome 19;Nephronophthisis 14;

TranscriptNM_015665.5NM_005763.3NM_020686.5

NM_000352.3NM_000033.3NM_000016.4NM_000017.2NM_001609.3NM_001098.2NM_004035.6NM_174917.2NM_001101.3NM_001614.3NM_001105.4NM_000666.2NM_001111.4NM_020247.4NM_001123.3NM_000682.5NM_000026.2NM_006796.2NM_000027.3NM_000686.4NM_017651.4NM_004208.3NM_004757.3NM_001626.3NM_005465.4NM_002860.3NM_000382.2NM_003748.3NM_001080.3NM_001182.4NM_019109.4NM_001004127.2NM_001099922.2NM_033087.3NM_005787.5NM_013339.3NM_001077691.1

NM_015120.4NM_014324.5NM_152424.3NM_000481.3NM_013275.5NM_007347.3NM_006420.2NM_000045.3NM_173728.3NM_015185.2NM_006015.4NM_020732.3NM_182896.2NM_000487.5

NM_139058.2

NM_177924.3NM_000048.3NM_133436.3NM_000049.2NM_000050.4NM_015338.5NM_004044.6NM_001007026.1

NM_000702.3NM_152296.3

NM_005765.2NM_012463.3NM_000052.6

NM_000489.3NM_013236.3NM_001698.2NM_000054.4

NM_152490.3

NM_006876.2NM_001139441.1

NM_000709.3NM_183050.2NM_005881.2NM_212552.2

NM_004333.4NM_152743.3NM_000060.2

NM_001211.5

NM_021830.4NM_138425.2NM_023073.3

NM_001127221.1

NM_000720.3NM_006030.2

NM_000726.3

NM_003688.3NM_001232.3

NM_000388.3

NM_000071.2NM_001080522.2NM_133459.3NM_001080414.2NM_031443.3NM_003159.2


NM_004366.5NM_001830.3NM_006580.3NM_001289.4NM_001042432.1NM_006493.2

NM_017882.2

NM_018941.3NM_006012.2NM_005076.3

NM_014141.5NM_001008215.2NM_015386.2NM_020751.2NM_032382.4

NM_001845.4NM_001846.2NM_015697.7NM_020312.3

NM_001303.3NM_032901.3

NM_004376.5NM_198076.4NM_001863.4NM_020361.4

NM_001875.4

NM_000098.2NM_000756.2NM_004750.4NM_024790.6NM_000100.3NM_025099.5

NM_001909.4NM_003793.3NM_003588.3NM_000784.3NM_000785.3NM_152783.3NM_001918.2NM_178151.2NM_001242896.1NM_000791.3NM_004006.2NM_025219.2NM_004408.2NM_020812.2NM_033407.2NM_014908.3NM_017613.2

NM_001382.3NM_003859.1NM_003863.3NM_000110.3NM_001385.2

NM_001376.4NM_001396.3NM_001083614.1NM_004425.3NM_001958.2

NM_018100.3NM_004247.3NM_024757.4

NM_022726.3NM_004098.3NM_020964.2NM_005670.3NM_007175.6NM_018341.2NM_014297.3NM_016042.2NM_024306.4

NM_003824.3NM_006567.3NM_014929.3NM_012160.3NM_001449.4

NM_024301.4

NM_001079802.1

NM_001456.3NM_002024.5NM_016725.2NM_005249.4NM_001080432.2NM_000147.4

NM_000806.5NM_000814.5

NM_000816.3NM_000153.3NM_000156.5NM_001002295.1

NM_005257.3NM_001482.2

NM_001005741.2NM_000159.2

NM_000161.2

NM_000162.3

NM_004752.3NM_004483.4NM_002055.4NM_024996.5NM_000169.2

NM_000404.2NM_000170.2NM_005270.4

NM_000168.5NM_000171.3NM_005271.3NM_002065.5NM_145262.3NM_000405.4


NM_002087.2NM_001195422.1NM_020771.3

NM_005327.4NM_006118.3NM_005333.4

NM_005334.2NM_021072.2NM_018486.2NM_001304840.1

NM_152722.4NM_003865.2

NM_000520.4NM_000521.3NM_152419.2NM_000411.5NM_000190.3NM_031844.2NM_002150.2

NM_005343.2

NM_004493.2NM_000414.3NM_002156.4NM_002168.2NM_016097.3NM_003640.3NM_001099857.1

NM_019892.3

NM_000207.2

NM_000208.2NM_001111125.2

NM_001101426.3NM_001267623.1NM_002225.3NM_032801.3NM_003724.2NM_001193466.1NM_001204269.1NM_004975.2NM_001112741.1NM_002238.3

NM_000238.3NM_139318.3NM_002241.4

NM_000525.3

NM_002247.3NM_172107.2NM_004519.3NM_001160130.1NM_020822.2NM_133497.3NM_153033.4NM_004187.3NM_021140.2NM_001145642.2NM_015634.3NM_001008537.2NM_004523.3NM_001098511.1NM_012310.4NM_004984.2NM_004522.2NM_198525.2NM_003482.3NM_007059.2

NM_194456.1

NM_000425.3NM_024884.2NM_002291.2NM_006059.3


NM_015884.3

NM_020166.3NM_001282403.1

NM_001110792.1,NM_004992.3NM_004268.4

NM_002397.4NM_001277061.1NM_152778.2NM_002408.3NM_015166.3NM_012213.2NM_015506.2

NM_015702.2NM_005943.5NM_176806.2NM_006302.2NM_004870.3NM_003829.3

NM_002449.4

NM_005957.4

NM_000254.2NM_000255.3NM_000259.3NM_003491.2NM_052876.2NM_000262.2NM_052867.2NM_001283018.1NM_001243251.1NM_144772.2NM_001143979.1NM_001144964.1NM_000266.3NM_004541.3NM_004544.3NM_175614.4NM_018838.3

NM_002488.4NM_005002.4NM_016013.2NM_174889.4NM_199069.1NM_014165.3NM_024120.4NM_152416.3NM_002491.2NM_005006.6NM_004550.4

NM_004551.2NM_002495.2NM_004553.4NM_024407.4NM_002496.3NM_007103.3NM_021074.4NM_015509.3NM_000434.3NM_018297.3NM_198586.2NM_020921.3NM_133433.3

NM_020742.2

NM_000435.2NM_000271.4NM_006432.3NM_000272.3NM_006545.4NM_001077350.2NM_001135659.1NM_022455.4NM_015922.2NM_025152.2NM_002538.2NM_000276.3

NM_015560.2

NM_002547.2NM_000531.5NM_016023.3

NM_172337.1NM_000430.3NM_000277.1NM_153638_LeuInit.2NM_152268.3NM_000920.3NM_001184880.1NM_145860.1

NM_002608.2

NM_002609.3NM_000284.3NM_003477.2NM_018444.3NM_020381.3NM_001171155.1

NM_000466.2NM_153818.1NM_003846.2NM_000286.2NM_002618.3NM_004565.2NM_004813.2NM_002857.3NM_000318.2NM_017929.5NM_003630.2NM_001131025.1NM_000287.3NM_000288.3NM_001256240.1NM_033419.3NM_032458.2NM_006623.3

NM_002641.3

NM_001127178.1NM_004278.3NM_145167.2NM_176787.4NM_153682.2NM_017837.3NM_001031689.2

NM_003560.2NM_015192.2NM_000303.2NM_007254.3NM_018129.3NM_015100.3

NM_002693.2

NM_007215.3

NM_001035256.1

NM_017739.3

NM_032806.4,NM_032806.5

NM_007171.3


NM_145239.2

NM_002778.2NM_058179.2NM_000264.3NM_000315.2NM_000317.2NM_005859.4NM_005051.1NM_000320.2NM_021252.3NM_004580.3NM_171998.2NM_006265.2NM_030665.3NM_020320.3NM_052859.3NM_006397.2NM_024570.3NM_032193.3NM_003730.4NM_024589.1NM_006914.3

NM_015713.4NM_173630.3NM_014363.4NM_015474.3NM_015265.3NM_005506.3

NM_001165963.1

NM_001037.4NM_021007.2NM_006922.3

NM_014191.3

NM_002977.3

NM_004168.2

NM_001042631.2NM_016955.3NM_005025.4NM_015559.2NM_033517.1


NM_025243.3NM_004170.5NM_001195728.1NM_004172.4NM_001193493.1NM_003042.3NM_006749.3NM_005984.2NM_003705.3NM_014252.3NM_000387.5NM_024698.5


NM_001128849.1NM_003073.3NM_003079.4NM_006306.2NM_005445.3NM_004595.4

NM_024700.2NM_001291411.1NM_145207.2NM_001130438.2NM_014467.2


NM_003850.2


NM_020705.2NM_005993.4NM_003193.3NM_001163435.1


NM_014254.1NM_181783.3NM_000391.3NM_016030.5NM_018965.2

NM_033629.2NM_017646.4NM_017662.4

NM_000368.4NM_000548.3NM_025265.3NM_207346.2

NM_000371.3NM_006009.3NM_018943.2NM_001069.2NM_178012.4

NM_006086.3NM_001070.4NM_003332.3


NM_006005.3NM_016373.2NM_021083.2NM_012479.3NM_205768.2

NM_018684.2NM_016032.3NM_014795.3NM_015069.3

DOCK6 NM_020812.3HCN1 NM_021072.3JAM3 NM_032801.4KIF2A NM_001098511.2LBR NM_002296.3OTX2 NM_172337.2RAB27A NM_004580.4SLC25A12 NM_003705.4SNIP1 NM_024700.3TREX1 NM_033629.3ZC4H2 NM_018684.3GABRB3I2 NM_021912.4EEF1A2 NM_001958.3ARHGEF9TNM_001173479.1ACSF3 NM_174917.3ALG9 NM_024740.2B3GALNT2NM_152490.2SLC20A2 NM_006749.4ZNF423 NM_015069.2

dnatesting.uchicago.edudnatesting.uchicago.edu/sites/default/files/epilepsy gene... · xls file ·...

Documents