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GenetischePanel-Diagnostik

ErkrankungEpilepsie, erbliche Syndrome

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Epilepsie, erbliche Syndrome mit 9 bzw. >400 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
EP9911
Anzahl Gene
407 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
25,9 kb (Core-/Basis-Gene)
967,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[[Sanger]]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CHRNA21590AD
CHRNA41884AD
CHRNB21509AD
CLCN22697AD und/oder AR
CSTB297AR
GABRG21404AD
GRIN2A4395AD
SCN1A6030AD und/oder Dig
SCN2A6018AD und/oder Dig
AARS2927
  • Keine OMIM-Gs verknüpft
AD und/oder AR
AARS12907AD und/oder AR
ABAT1503AR
ACOX11869AR
ACTL6B1295
  • Keine OMIM-Gs verknüpft
AD und/oder AR
ADAR2796AD und/oder AR
ADGRD13080
  • Keine OMIM-Gs verknüpft
-
ADGRG12064AR
ADPRHL21098
  • Keine OMIM-Gs verknüpft
AR
ADSL1455AR
AFF33756AD und/oder Ass
AIMP1939AR
AKT31440AD
ALDH5A11608AR
ALDH7A11620AR
ALG11395AR
ALG111479AR
ALG13417XLD
ALG31173AR
ALG61524AR
ALG81404AR
ALG91858AR
ALPL1575AD und/oder AR
AMPD22478AR
AMT1212AR
AP2M11400
  • Keine OMIM-Gs verknüpft
AD
AP3B23249AR
ARFGEF25358AR
ARG1969AR
ARHGEF91551XLR
ARID1B6750AD und/oder SMu
ARV1816AR
ARX1689XL
ASAH11188AR
ASPA942AR
ATN13573AD
ATP1A13072AD
ATP1A23063AD
ATP1A33042AD
ATP6V0A22571AR
ATP6V1A1868
  • Keine OMIM-Gs verknüpft
AD und/oder AR
ATP7A4503XLR
ATRX7479XL und/oder SMu
BCKDHA1338AR
BCKDHB1179AR
BCS1L1260AR
BOLA3324AR
BRAF2301AD und/oder SMu und/oder Sus
BRAT12466AR
BSCL21197AD und/oder AR
BTD1572AR
C12orf57381AR
CACNA1A6786AD und/oder Ass
CACNA1B7020AR
CACNA1D6546AD und/oder AR
CACNA1E6813AD
CACNA1G6945AD
CACNA2D23438AR
CAD6774
  • Keine OMIM-Gs verknüpft
AR
CASK2766XL
CC2D2A4863AR
CDKL53093XLD
CHD25487AD
CIC4827AD
CLCN42283XLD
CLN31317AR
CLN8861AR
CLTC5111
  • Keine OMIM-Gs verknüpft
AD
CNKSR23015XL
CNNM22628AD und/oder AR
CNPY3837AR
CNTNAP23996AR
COG72313AR
COL18A14560AR
COL4A15010AD und/oder Mult
COL4A25139AD und/oder Mult
COQ21266AD und/oder AR
COQ4798AR
COQ9957AR
CPA61314AD und/oder AR
CREBBP7329AD und/oder SMu und/oder Meth
CSNK2B665
  • Keine OMIM-Gs verknüpft
AD
CTNNA22583AR
CTSD1239AR
CUL4B2742XLR
CUX24461AD
D2HGDH1566AR
DBT1449AR
DCX1083XL
DDX3X1986XL und/oder SMu
DEAF11698AR
DEGS11018
  • Keine OMIM-Gs verknüpft
AR
DENND5A3864AR
DEPDC54812AD
DHDDS900AD und/oder AR
DHPS1210
  • Keine OMIM-Gs verknüpft
AR
DHX304076
  • Keine OMIM-Gs verknüpft
AD
DIAPH13819AD
DNM12595AD
DNM1L2211AD und/oder AR
DOCK76390AR
DPAGT11227AR
DPM1783AR
DPYD3078AR
DYNC1H113941AD
DYRK1A2292AD
EARS21572AR
EEF1A21392AD
EFTUD22919AD
EHMT13897AD
EIF2B1918AR
EIF2B21056AR
EIF2B31359AR
EIF2B41569AR
EIF2B52166AR
EIF2S31419XLR
EIF3F1091
  • Keine OMIM-Gs verknüpft
AR
EML12448AR
EPG57740AR
EPM2A996AR
ETHE1765AR
EXOSC3828AR
FARS21356AR
FBXL41866AR
FBXO112784AD
FGF12848
  • Keine OMIM-Gs verknüpft
AD
FKTN1386AR
FLNA7920XL
FOLR1774AR
FOXG11470AD
FRRS1L1035AR
FUCA11401AR
FUT81239AR
GABBR22826AD
GABRA11371AD
GABRA21356AD und/oder Mult und/oder SMu
GABRA51389AD
GABRB21603
  • Keine OMIM-Gs verknüpft
AD
GABRB31422AD
GABRD1359AD
GALC2058AR
GAMT711AR
GBA1611AD und/oder AR und/oder Sus
GFAP1299AD
GLB12034AR
GLDC3063AR
GLUD11677AD
GLUL1122AR
GM2A582AR
GNAO11065AD
GNAQ1080AD und/oder SMu
GNB11032
  • Keine OMIM-Gs verknüpft
AD und/oder SMu
GNB51062AR
GOSR2639AR
GOT21303
  • Keine OMIM-Gs verknüpft
AR
GPAA11878
  • Keine OMIM-Gs verknüpft
AR
GPHN2310AR
GRIA43017
  • Keine OMIM-Gs verknüpft
AD
GRIN12817AD und/oder AR
GRIN2B4455AD
GRIN2D4023
  • Keine OMIM-Gs verknüpft
AD
GTPBP21826
  • Keine OMIM-Gs verknüpft
AR
HACE12730AD und/oder Sus
HAX1840AR
HCFC16108XLR
HCN12673AD
HCN22670AD und/oder AR
HECW24768
  • Keine OMIM-Gs verknüpft
AD
HEPACAM1251AD und/oder AR
HEXA1590AR
HEXB1671AR
HMGCL978AR
HNRNPH21404
  • Keine OMIM-Gs verknüpft
XLD
HNRNPR1921
  • Keine OMIM-Gs verknüpft
AD
HNRNPU2478AD
HRAS570AD und/oder SMu und/oder Sus
HSD17B42211AR
HTRA21377AR und/oder Sus
IER3IP1249AR
IFIH13078AD
IKBKG1260XL
IQSEC24467XLD
ITPA585AR
KARS11940AR
KCNA21500AD
KCNB12577AD
KCNC11758AD
KCNJ101140AR und/oder Dig
KCNJ111173AD und/oder AR und/oder Ass
KCNK41286
  • Keine OMIM-Gs verknüpft
AD
KCNMA13537AD und/oder AR
KCNQ22619AD
KCNQ32619AD
KCNQ52772AD
KCNT13708AD
KCNT23758
  • Keine OMIM-Gs verknüpft
AD
KCTD32448AR
KCTD7870AR
KIAA110915018AR
KIF1A5073AD und/oder AR
KIF2A2235AD
KIF5C2874AD
KMT2E5577AD
KRAS567AD und/oder SMu und/oder Sus
LGI11674AD und/oder Sus
LIAS990AR
MACF116293AD
MAF1212AD
MAGI24368AR
MAP2K11182AD
MAP2K21203AD
MBD54485AD
MBOAT71200AR
MDH21017AR
MECP21461XL
MED126534XLR
MEF2C1422AD und/oder Mult
MFF1029AR
MFSD81557AR
MLC11134AR
MMACHC849AR
MMADHC891AR
MOCS11158AR
MOCS2567AR
MOGS2196AR
MPDU1744AR
MTHFR1971AD und/oder AR und/oder Ass
MTOR7650AD
NACC11589
  • Keine OMIM-Gs verknüpft
AD
NAGA1236AR
NARS21434AR
NBEA2220AD
NDE11008AR
NDUFA1213XLR
NDUFA101068AR
NDUFAF2510AR
NDUFAF5954AR
NDUFS4528AR
NDUFS8633AR
NDUFV11368AR
NEXMIF4551XLD
NGLY11911AR
NHLRC11188AR
NPRL21228
  • Keine OMIM-Gs verknüpft
AD
NPRL31723
  • Keine OMIM-Gs verknüpft
AD
NRXN14644AR
NSD18091AD und/oder SMu
NSDHL1122XL
NTRK22517AD
NUS1887
  • Keine OMIM-Gs verknüpft
AD und/oder AR
OCLN1569AR
OPHN12409XLR
OTUD6B992
  • Keine OMIM-Gs verknüpft
AR
P4HTM1701
  • Keine OMIM-Gs verknüpft
AR
PACS12892AD
PACS22743
  • Keine OMIM-Gs verknüpft
AD
PAFAH1B11233AD
PAH1359AR
PAK11702
  • Keine OMIM-Gs verknüpft
AD
PARS21428AR
PCCA2187AR
PCCB1620AR
PCDH123559
  • Keine OMIM-Gs verknüpft
AR
PCDH193447XL
PDHA11173XLD
PDHX1506AR
PET100222AR und/oder Mi
PHACTR11743AD
PHGDH1602AR
PIGA1455XLR
PIGB1699
  • Keine OMIM-Gs verknüpft
AR
PIGG3337
  • Keine OMIM-Gs verknüpft
AR
PIGH767AR
PIGN2796AR
PIGO3270AR
PIGQ1746AR
PIGT1737AD und/oder AR
PIGU1426
  • Keine OMIM-Gs verknüpft
AR
PIGW1515AR
PIK3R22187AD
PLAA2583
  • Keine OMIM-Gs verknüpft
AR
PLCB13651AR
PLPBP995
  • Keine OMIM-Gs verknüpft
AR
PMM2741AR
PNKP1566AR
PNPO786AR
POLG3720AD und/oder AR
POMGNT11983AR
POMT12244AR
PPP2CA937
  • Keine OMIM-Gs verknüpft
AD
PPP3CA1566AD
PPT1921AR
PRICKLE12496AR
PRMT71929AR
PRRT21023AD
PSAP1575AR
PTPN234911AR
PTS438AR
PURA969AD
QARS12328AR
RAB11B691
  • Keine OMIM-Gs verknüpft
AD
RAB18621AR
RALA625
  • Keine OMIM-Gs verknüpft
AD
RARS21737AR
RELN10383AD und/oder AR
RFT11626AR
RHOBTB22625
  • Keine OMIM-Gs verknüpft
AD
RMND11350AR
RNASEH2A900AR
RNASEH2B939AR
RNASEH2C495AR
RNASET2771AR
ROGDI864AR
RORA1647AD
RORB1431
  • Keine OMIM-Gs verknüpft
AD
RTN4IP11200
  • Keine OMIM-Gs verknüpft
AR
RTTN6681AR
SAMHD11881AD und/oder AR und/oder Ass
SCARB21437AR
SCN1B657AD und/oder AR
SCN3A6003AD
SCN8A5943AD
SEPSECS1506AR
SETBP14791AD und/oder SMu
SGSH1509AR
SLC12A53351AD und/oder AR
SLC13A51707AR
SLC16A21620XL
SLC1A21725AD und/oder Ass
SLC1A41607
  • Keine OMIM-Gs verknüpft
AR
SLC25A1957AR
SLC25A122037AR
SLC25A22972AR
SLC2A11479AD und/oder AR
SLC35A21182XLD
SLC6A11800AD
SLC6A81908XLR
SLC9A62010XLD
SMARCA24773AD
SMARCC23459AD
SMC1A3702XLD
SMS942XLR
SNAP25621AD
SPATA52951
  • Keine OMIM-Gs verknüpft
AR
SPTAN17434AD
ST3GAL51188AR
STAG13777AD
STAMBP1275AR
STRADA1185AR
STX1B867AD
STXBP11812AD
SUCLA21392AR
SUOX1638AR
SURF1903AR
SYN12010XL
SYNGAP14032AD
SYNJ14839AR
SZT210128AR
TANGO21252
  • Keine OMIM-Gs verknüpft
AR
TBC1D241680AD und/oder AR
TBCD7465
  • Keine OMIM-Gs verknüpft
AR
TBCK2682AR
TBL1XR11545AD
TCF42016AD und/oder Mult
TDP21089AR
TPP11692AR
TRAK12862AR
TREX1945AD und/oder AR und/oder Ass
TRIM81796
  • Keine OMIM-Gs verknüpft
AD
TRPM66069AR
TSC13495AD und/oder Sus
TSC25424AD und/oder Sus
TSEN541581AR
TUBA1A1356AD
TUBB2A1338AD
TUBB2B1338AD
TUBB31353AD
TUBB4A1335AD
TUBG11356AD
UBA51255
  • Keine OMIM-Gs verknüpft
AR
UBE2A459XLR
UBE3A2559AD und/oder Mult
UFM1405
  • Keine OMIM-Gs verknüpft
AR
UNC809777AR
VAMP2373
  • Keine OMIM-Gs verknüpft
AD
VARS3827
  • Keine OMIM-Gs verknüpft
AR
VPS113262
  • Keine OMIM-Gs verknüpft
AR
WARS21177
  • Keine OMIM-Gs verknüpft
AR
WASF11688
  • Keine OMIM-Gs verknüpft
AD
WDR371567
  • Keine OMIM-Gs verknüpft
AD
WDR451086XLD
WDR731137AR
WWOX1245AR
YWHAG746
  • Keine OMIM-Gs verknüpft
AD
ZBTB181596AD
ZDHHC91095XL
ZEB23645AD
ZNF1425672
  • Keine OMIM-Gs verknüpft
AR

Infos zur Erkrankung

Klinischer Kommentar

Mindestens die Hälfte der bekannten Epilepsie-Formen haben sehr wahrscheinlich eine monogene genetische Grundlage haben. Dieser Zusammenhang kann aus primären genetischen Ursachen resultieren oder sekundär auf gut definierten strukturellen oder metabolischen Störungen beruhen, von denen die meisten Erkrankungen auch definierte genetische Ursachen haben. Das Panel umfasst Gene, die in mutierter Form Epilepsien oder Syndrome mit Epilepsie als Kernsymptom(e) verursachen. Darüber hinaus werden Neuroentwicklung-assoziierte Gene abgedeckt, die sowohl mit Hirnentwicklung-bedingten Formationen wie auch mit Epilepsie assoziiert sind. Weiterhin sind Gene enthalten, die sowohl mit körperlichen oder anderen systemischen Störungen wie auch mit Epilepsie oder Krampfanfällen assoziiert sind. Schließlich ist eine Reihe von Genen enthalten, die höchstwahrscheinlich mit Epilepsie assoziiert sind. Wiewohl mit diesem umfangreichen panel die meisten monogenen Ursachen von erblichen Epilepsie Syndromen abgedeckt sind, stellt ein negatives Ergebnis doch keinen sicheren Ausschluss auch von sehr selten vorkommenden Mutationen in weiteren Genen dar.

Referenz: https://pubmed.ncbi.nlm.nih.gov/28007376/

 

Synonyme
  • Allelic: Adenocarcinoma of lung, somatic (BRAF)
  • Allelic: Alcohol dependence, susceptibility to (GABRA2)
  • Allelic: Alpha-thalassemia myelodysplasia syndrome, somatic (ATRX)
  • Allelic: Ataxia-oculomotor apraxia 4 (PNKP)
  • Allelic: Atrial fibrillation, familial, 13 (SCN1B)
  • Allelic: Autism susceptibility 15 (CNTNAP2)
  • Allelic: Autism susceptibility, XL 3 (MECP2)
  • Allelic: Bjornstad syndrome (BCS1L)
  • Allelic: Bladder cancer, somatic (HRAS, KRAS)
  • Allelic: Breast cancer, somatic (KRAS)
  • Allelic: Brugada syndrome 5 (SCN1B)
  • Allelic: CAPOS syndrome (ATP1A3)
  • Allelic: CHILD syndrome (NSDHL)
  • Allelic: COACH syndrome 2 (CC2D2A)
  • Allelic: Capillary malformations, congenital, 1, somatic, mosaic (GNAQ)
  • Allelic: Cardiac conduction defect, nonspecific (SCN1B)
  • Allelic: Cardiac valvular dysplasia, XL (FLNA)
  • Allelic: Cardiofaciocutaneous syndrome (BRAF)
  • Allelic: Cardiofaciocutaneous syndrome 2 (KRAS)
  • Allelic: Cardiomyopathy, dilated, 1X (FKTN)
  • Allelic: Cataract 21, multiple types (MAF)
  • Allelic: Charcot-Marie-Tooth disease, AR intermediate, B (KARS)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2DD (ATP1A1)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2N (AARS)
  • Allelic: Charcot-Marie-Tooth disease, type 2B2 (PNKP)
  • Allelic: Charcot-Marie-Tooth disease, type 4K (SURF1)
  • Allelic: Chilblain lupus (TREX1)
  • Allelic: Chilblain lupus 2 (SAMHD1)
  • Allelic: Cognitive impairment with/-out cerebellar ataxia (SCN8A)
  • Allelic: Colorectal cancer, somatic (BRAF)
  • Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
  • Allelic: Congenital short bowel syndrome (FLNA)
  • Allelic: Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
  • Allelic: Cutis laxa, AR, type IIA (ATP6V0A2)
  • Allelic: Deafness, AD 1, with/-out thrombocytopenia (DIAPH1)
  • Allelic: Deafness, AD 65 (TBC1D24)
  • Allelic: Deafness, AR 86 (TBC1D24)
  • Allelic: Deafness, AR 89 (KARS)
  • Allelic: Deafness, AR 94 (NARS2)
  • Allelic: Diabetes mellitus, transient neonatal 3 (KCNJ11)
  • Allelic: Diabetes mellitus, type 2, susceptibility to (KCNJ11)
  • Allelic: Dyschromatosis symmetrica hereditaria (ADAR)
  • Allelic: Dystonia 4, torsion, AD (TUBB4A)
  • Allelic: Dystonia 9 (SLC2A1)
  • Allelic: Dystonia-12 (ATP1A3)
  • Allelic: Enlarged vestibular aqueduct, digenic (KCNJ10)
  • Allelic: Episodic ataxia, type 2 (CACNA1A)
  • Allelic: Esophageal squamous cell carcinoma, somatic (WWOX)
  • Allelic: FG syndrome 2 (FLNA)
  • Allelic: FG syndrome 4 (CASK)
  • Allelic: Farber lipogranulomatosis (ASAH1)
  • Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Allelic: Frontometaphyseal dysplasia 1 (FLNA)
  • Allelic: GM1-gangliosidosis, type II, III (GLB1)
  • Allelic: GRACILE syndrome (BCS1L)
  • Allelic: Gastric cancer, somatic (KRAS)
  • Allelic: Gaucher disease, perinatal lethal (GBA)
  • Allelic: Gaucher disease, type I (GBA)
  • Allelic: Glaucoma, primary closed-angle (COL18A1)
  • Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1, -2)
  • Allelic: Hydranencephaly with abnormal genitalia (ARX)
  • Allelic: Hyperphenylalaninemia, non-PKU mild (PAH)
  • Allelic: Hypomagnesemia 6, renal (CNNM2)
  • Allelic: Immunodeficiency 33 (IKBKG)
  • Allelic: Incontinentia pigmenti (IKBKG)
  • Allelic: Inosine triphosphatase deficiency (ITPA)
  • Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
  • Allelic: Language delay + ADHD/cognitive impairment with/-out cardiac arrhythmia (GNB5)
  • Allelic: Leukemia, acute myeloid, somatic (KRAS)
  • Allelic: Lewy body dementia, susceptibility to (GBA)
  • Allelic: Lipodystrophy, congenital generalized, type 2 (BSCL2)
  • Allelic: Lung cancer, somatic (KRAS)
  • Allelic: Lymphangioleiomyomatosis (TSC1)
  • Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
  • Allelic: Macular dystrophy with central cone involvement (MFSD8)
  • Allelic: Maturity-onset diabetes of the young, type 13 (KCNJ11)
  • Allelic: Meckel syndrome 6 (CC2D2A)
  • Allelic: Melanoma, malignant, somatic (BRAF)
  • Allelic: Melnick-Needles syndrome (FLNA)
  • Allelic: Melorheostosis, isolated, somatic mosaic (MAP2K1)
  • Allelic: Mental retardation, XL 29 + others (ARX)
  • Allelic: Mental retardation, with/-out nystagmus (CASK)
  • Allelic: Microhydranencephaly (NDE1)
  • Allelic: Migraine, familial hemiplegic, 3 (SCN1A)
  • Allelic: Mitchell syndrome (ACOX1)
  • Allelic: Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
  • Allelic: Mucopolysaccharidosis type IVB [Morquio] (GLB1)
  • Allelic: Multiple system atrophy, susceptibility to (COQ2)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (POMT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (POMGNT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (FKTN)
  • Allelic: Neu-Laxova syndrome 1 (PHGDH)
  • Allelic: Neural tube defects, susceptibility to (MTHFR)
  • Allelic: Neuropathy, distal hereditary motor, type VC (BSCL2)
  • Allelic: Neuropathy, hereditary sensory, type IIC (KIF1A)
  • Allelic: Nevus sebaceous or woolly hair nevus, somatic (HRAS)
  • Allelic: Nicotine addiction, susceptibility to (CHRNA4)
  • Allelic: Nicotine dependence, protection against (GABBR2)
  • Allelic: Nicotine dependence, susceptibility to (GABBR2)
  • Allelic: Nonsmall cell lung cancer, somatic (BRAF)
  • Allelic: Noonan syndrome 3 (KRAS)
  • Allelic: Noonan syndrome 7 (BRAF)
  • Allelic: Obesity, hyperphagia + developmental delay (NTRK2)
  • Allelic: Oculoectodermal syndrome, somatic (KRAS)
  • Allelic: Optic atrophy 5 (DNM1L)
  • Allelic: Otopalatodigital syndrome, type I + II (FLNA)
  • Allelic: Pancreatic carcinoma, somatic (KRAS)
  • Allelic: Parkinson disease 13 (HTRA2)
  • Allelic: Parkinson disease 20, early-onset (SYNJ1)
  • Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
  • Allelic: Paroxysmal nocturnal hemoglobinuria (PIGT)
  • Allelic: Paroxysmal nocturnal hemoglobinuria, somatic (PIGA)
  • Allelic: Partington syndrome (ARX)
  • Allelic: Polycystic liver disease 3 with or without kidney cysts (ALG8)
  • Allelic: Proud syndrome (ARX)
  • Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
  • Allelic: Retinal arteries, tortuosity of (COL4A1)
  • Allelic: Retinitis pigmentosa 59 (DHDDS)
  • Allelic: Retinitis pigmentosa 76 (POMGNT1)
  • Allelic: Schizophrenia, susceptibility to (MTHFR)
  • Allelic: Schizophrenia, susceptibility to, 17 (NRXN1)
  • Allelic: Silver spastic paraplegia syndrome (BSCL2)
  • Allelic: Singleton-Merten syndrome 1 (IFIH1)
  • Allelic: Sinoatrial node dysfunction + deafness (CACNA1D)
  • Allelic: Spastic paraplegia 30, AD, AR (KIF1A)
  • Allelic: Spastic paraplegia 77, AR (FARS2)
  • Allelic: Spinal muscular atrophy, distal, XL 3 (ATP7A)
  • Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
  • Allelic: Spinocerebellar ataxia 42 (CACNA1G)
  • Allelic: Spinocerebellar ataxia 6 (CACNA1A)
  • Allelic: Spinocerebellar ataxia, AR 7 (TPP1)
  • Allelic: Spitz nevus or nevus spilus, somatic (HRAS)
  • Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
  • Allelic: Terminal osseous dysplasia (FLNA)
  • Allelic: Thromboembolism, susceptibility to (MTHFR)
  • Allelic: Thyroid carcinoma, follicular, somatic (HRAS)
  • Allelic: Vascular disease, susceptibility to (MTHFR)
  • 3-methylglutaconic aciduria, type VIII (HTRA2)
  • 5-fluorouracil toxicity (DPYD)
  • Adenylosuccinase deficiency (ADSL)
  • Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
  • Aicardi-Goutieres syndrome 2 (RNASEH2B)
  • Aicardi-Goutieres syndrome 3 (RNASEH2C)
  • Aicardi-Goutieres syndrome 4 (RNASEH2A)
  • Aicardi-Goutieres syndrome 5 (SAMHD1)
  • Aicardi-Goutieres syndrome 6 (ADAR)
  • Aicardi-Goutieres syndrome 7 (IFIH1)
  • Alexander disease (GFAP)
  • Alkuraya-Kucinskas syndrome (KIAA1109)
  • Allan-Herndon-Dudley syndrome (SLC16A2)
  • Allelic: Congenital disorder of glycosylation, type 1aa (NUS1)
  • Alpha-thalassemia/mental retardation syndrome (ATRX)
  • Alternating hemiplegia of childhood 1 (ATP1A2)
  • Alternating hemiplegia of childhood 2 (ATP1A3)
  • Angelman syndrome (UBE3A)
  • Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
  • Argininemia (ARG1)
  • Arteriovenous malformation of the brain, somatic (KRAS)
  • Arthrogryposis, cleft palate, craniosynostosis, impaired intell. development (PPP3CA)
  • Ayme-Gripp syndrome (MAF)
  • Band heterotopia (EML1)
  • Biotinidase deficiency (BTD)
  • Brain small vessel disease 2 (COL4A2)
  • Brain small vessel disease with/-out ocular anomalies (COL4A1)
  • CK syndrome (NSDHL)
  • Canavan disease (ASPA)
  • Cardiofaciocutaneous syndrome 3 (MAP2K1)
  • Cardiofaciocutaneous syndrome 4 (MAP2K2)
  • Cerebellar atrophy with seizures + variable developmental delay (CACNA2D2)
  • Cerebellar atrophy, developmental delay + seizures (KCNMA1)
  • Cerebral creatine deficiency syndrome 1 (SLC6A8)
  • Cerebral creatine deficiency syndrome 2 (GAMT)
  • Ceroid lipofuscinosis, neuronal, 1 (PPT1)
  • Ceroid lipofuscinosis, neuronal, 10 (CTSD)
  • Ceroid lipofuscinosis, neuronal, 2 (TPP1)
  • Ceroid lipofuscinosis, neuronal, 3 (CLN3)
  • Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
  • Ceroid lipofuscinosis, neuronal, 8 (CLN8)
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
  • Chromosome 5q14.3 deletion syndrome (MEF2C)
  • Coenzyme Q10 deficiency, primary, 1 (COQ2)
  • Coenzyme Q10 deficiency, primary, 5 (COQ9)
  • Coenzyme Q10 deficiency, primary, 7 (COQ4)
  • Coffin-Siris syndrome 1 (ARID1B)
  • Coffin-Siris syndrome 8 (SMARCC2)
  • Combined D-2- and L-2-hydroxyglutaric aciduria (SLC25A1)
  • Combined SAP deficiency (PSAP)
  • Combined oxidative phosphorylation deficiency 11 (RMND1)
  • Combined oxidative phosphorylation deficiency 12 (EARS2)
  • Combined oxidative phosphorylation deficiency 14 (FARS2)
  • Combined oxidative phosphorylation deficiency 24 (NARS2)
  • Congenital disorder of deglycosylation (NGLY1)
  • Congenital disorder of glycosylation with defective fucosylation 1 (FUT8)
  • Congenital disorder of glycosylation, type 1bb (DHDDS)
  • Congenital disorder of glycosylation, type IIb (MOGS)
  • Congenital disorder of glycosylation, type IIe (COG7)
  • Congenital disorder of glycosylation, type IIm (SLC35A2)
  • Congenital disorder of glycosylation, type Ia (PMM2)
  • Congenital disorder of glycosylation, type Ic (ALG6)
  • Congenital disorder of glycosylation, type Id (ALG3)
  • Congenital disorder of glycosylation, type Ie (DPM1)
  • Congenital disorder of glycosylation, type If (MPDU1)
  • Congenital disorder of glycosylation, type Ih (ALG8)
  • Congenital disorder of glycosylation, type Ij (DPAGT1)
  • Congenital disorder of glycosylation, type Ik (ALG1)
  • Congenital disorder of glycosylation, type Il (ALG9)
  • Congenital disorder of glycosylation, type In (RFT1)
  • Congenital disorder of glycosylation, type Ip (ALG11)
  • Congenital disorder of glycosylation, type Is (ALG13)
  • Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1_CAG)
  • Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
  • Cortical dysplasia, complex, with other brain malformations 2 (KIF5C)
  • Cortical dysplasia, complex, with other brain malformations 3 (KIF2A)
  • Cortical dysplasia, complex, with other brain malformations 4 (TUBG1)
  • Cortical dysplasia, complex, with other brain malformations 5 (TUBB2A)
  • Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Cortical dysplasia, complex, with other brain malformations 9 (CTNNA2)
  • Cortical dysplasia-focal epilepsy syndrome (CNTNAP2)
  • Costello syndrome (HRAS)
  • D-2-hydroxyglutaric aciduria (D2HGDH)
  • D-bifunctional protein deficiency (HSD17B4)
  • DOORS syndrome (TBC1D24)
  • Dentatorubral-pallidoluysian atrophy (ATN1-CAG)
  • Developmental + epileptic encephalopathy 1 (ARX)
  • Developmental + epileptic encephalopathy 12 (PLCB1)
  • Developmental + epileptic encephalopathy 13 (SCN8A)
  • Developmental + epileptic encephalopathy 14 (KCNT1)
  • Developmental + epileptic encephalopathy 16 (TBC1D24)
  • Developmental + epileptic encephalopathy 17 (GNAO1)
  • Developmental + epileptic encephalopathy 18 (SZT2)
  • Developmental + epileptic encephalopathy 19 (GABRA1)
  • Developmental + epileptic encephalopathy 2 (CDKL5)
  • Developmental + epileptic encephalopathy 23 (DOCK7)
  • Developmental + epileptic encephalopathy 24 (HCN1)
  • Developmental + epileptic encephalopathy 25, with amelogenesis imperfecta (SLC13A5)
  • Developmental + epileptic encephalopathy 26 (KCNB1)
  • Developmental + epileptic encephalopathy 27 (GRIN2B)
  • Developmental + epileptic encephalopathy 28 (WWOX)
  • Developmental + epileptic encephalopathy 29 (AARS)
  • Developmental + epileptic encephalopathy 3 (SLC25A22)
  • Developmental + epileptic encephalopathy 31 (DNM1)
  • Developmental + epileptic encephalopathy 32 (KCNA2)
  • Developmental + epileptic encephalopathy 33 (EEF1A2)
  • Developmental + epileptic encephalopathy 34 (SLC12A5)
  • Developmental + epileptic encephalopathy 35 (ITPA)
  • Developmental + epileptic encephalopathy 36 (ALG13)
  • Developmental + epileptic encephalopathy 37 (FRRS1L)
  • Developmental + epileptic encephalopathy 38 (ARV1)
  • Developmental + epileptic encephalopathy 39 (SLC25A12)
  • Developmental + epileptic encephalopathy 41 (SLC1A2)
  • Developmental + epileptic encephalopathy 42 (CACNA1A)
  • Developmental + epileptic encephalopathy 43 (GABRB3)
  • Developmental + epileptic encephalopathy 44 (UBA5)
  • Developmental + epileptic encephalopathy 46 (GRIN2D)
  • Developmental + epileptic encephalopathy 47 (FGF12)
  • Developmental + epileptic encephalopathy 48 (AP3B2)
  • Developmental + epileptic encephalopathy 49 (DENND5A)
  • Developmental + epileptic encephalopathy 5 (SPTAN1)
  • Developmental + epileptic encephalopathy 50 (CAD)
  • Developmental + epileptic encephalopathy 51 (MDH2)
  • Developmental + epileptic encephalopathy 52 (SCN1B)
  • Developmental + epileptic encephalopathy 53 (SYNJ1)
  • Developmental + epileptic encephalopathy 54 (HNRNPU)
  • Developmental + epileptic encephalopathy 56 (YWHAG)
  • Developmental + epileptic encephalopathy 57 (KCNT2)
  • Developmental + epileptic encephalopathy 58 (NTRK2)
  • Developmental + epileptic encephalopathy 59 (GABBR2)
  • Developmental + epileptic encephalopathy 60 (CNPY3)
  • Developmental + epileptic encephalopathy 64 (RHOBTB2)
  • Developmental + epileptic encephalopathy 66 (PACS2)
  • Developmental + epileptic encephalopathy 67 (CUX2)
  • Developmental + epileptic encephalopathy 68 (TRAK1)
  • Developmental + epileptic encephalopathy 69 (CACNA1E)
  • Developmental + epileptic encephalopathy 7 (KCNQ2)
  • Developmental + epileptic encephalopathy 70 (PHACTR1)
  • Developmental + epileptic encephalopathy 74 (GABRG2)
  • Developmental + epileptic encephalopathy 75 (PARS2)
  • Developmental + epileptic encephalopathy 76 (ACTL6B)
  • Developmental + epileptic encephalopathy 77 PIGQ)
  • Developmental + epileptic encephalopathy 78 (GABRA2)
  • Developmental + epileptic encephalopathy 79 (GABRA5)
  • Developmental + epileptic encephalopathy 8 (ARHGEF9)
  • Developmental + epileptic encephalopathy 80 (PIGB)
  • Developmental + epileptic encephalopathy 82 (GOT2)
  • Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • Developmental + epileptic encephalopathy 9 (PCDH19)
  • Developmental + epileptic encephalopathy 92 (GABRB2)
  • Developmental delay + seizures with/-out movement abnormalities (DHDDS)
  • Developmental disease gene with early generalized epilepsy phenotypes (NBEA)
  • Diabetes, permanent neonatal 2, with/-out neurologic features (KCNJ11)
  • Diencephalic-mesencephalic junction dysplasia syndrome 1 (PCDH12)
  • Dihydropyrimidine dehydrogenase deficiency (DPYD)
  • Dravet syndrome (SCN1A)
  • Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
  • Encephalopathy due to defective mitochondrial + peroxisomal fission 2 (MFF)
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
  • Encephalopathy, neonatal severe (MECP2)
  • Encephalopathy, progressive, early-onset, with brain atrophy + thin corpus callosum (TBCD)
  • Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
  • Epilepsy nocturnal frontal lobe, 5 (KCNT1)
  • Epilepsy, XL, with variable learning disabilities + behavior disorders (SYN1)
  • Epilepsy, childhood absence, susceptibility to, 2 (GABRG2)
  • Epilepsy, childhood absence, susceptibility to, 4 (GABRA1)
  • Epilepsy, childhood absence, susceptibility to, 5 (GABRB3)
  • Epilepsy, early-onset, vitamin B6-dependent (PLPBP)
  • Epilepsy, familial focal, with variable foci 1 (DEPDC5)
  • Epilepsy, familial focal, with variable foci 2 (NPRL2)
  • Epilepsy, familial focal, with variable foci 3 (NPRL3)
  • Epilepsy, familial focal, with variable foci 4 (SCN3A)
  • Epilepsy, familial temporal lobe, 1 (LGI1)
  • Epilepsy, familial temporal lobe, 5 (CPA6)
  • Epilepsy, familial temporal lobe, 7 (RELN)
  • Epilepsy, focal, with speech disorder + with/-out mental retardation (GRIN2A)
  • Epilepsy, generalized, with febrile seizures plus, type 1 (SCN1B)
  • Epilepsy, generalized, with febrile seizures plus, type 2 (SCN1A)
  • Epilepsy, generalized, with febrile seizures plus, type 3 (GABRG2)
  • Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to (GABRD)
  • Epilepsy, hearing loss + mental retardation syndrome (SPATA5)
  • Epilepsy, idiopathic generalized, 10 (GABRD)
  • Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Epilepsy, idiopathic generalized, susceptibility to, 14 (SLC12A5)
  • Epilepsy, idiopathic generalized, susceptibility to, 15 (RORB)
  • Epilepsy, idiopathic generalized, susceptibility to, 16 (KCNMA1)
  • Epilepsy, juvenile myoclonic, susceptibility to (GABRD)
  • Epilepsy, juvenile myoclonic, susceptibility to, 5 (GABRA1)
  • Epilepsy, nocturnal frontal lobe, 1 (CHRNA4)
  • Epilepsy, nocturnal frontal lobe, 3 (CHRNB2)
  • Epilepsy, nocturnal frontal lobe, 4 (CHRNA2)
  • Epilepsy, nocturnal frontal lobe, 5 (KCNT1)
  • Epilepsy, progressive myoclonic 1A, Unverricht + Lundborg (CSTB)
  • Epilepsy, progressive myoclonic 1B (PRICKL1)
  • Epilepsy, progressive myoclonic 2A, Lafora (EPM2A)
  • Epilepsy, progressive myoclonic 2B [Lafora] (NHLRC1)
  • Epilepsy, progressive myoclonic 3, with/-out intracellular inclusions (KCTD7)
  • Epilepsy, progressive myoclonic 4, with/-out renal failure (SCARB2)
  • Epilepsy, progressive myoclonic 6 (GOSR2)
  • Epilepsy, progressive myoclonic 7 (KCNC1)
  • Epilepsy, pyridoxine-dependent (ALDH7A1)
  • Epilepsy, rolandic, with proxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
  • Epileptic encephalopathy (KCTD3)
  • Epileptic encephalopathy, childhood-onset (CHD2)
  • Epileptic encephalopathy, early infantile, 11 (SCN2A)
  • Epileptic encephalopathy, early infantile, 14 (KCNT1)
  • Epileptic encephalopathy, early infantile, 4 (STXBP1)
  • Epileptic encephalopathy, early infantile, 52 (SCN1B)
  • Epileptic encephalopathy, early infantile, 6 [Dravet syndrome] (SCN1A)
  • Epileptic encephalopathy, early infantile, 62 (SCN3A)
  • Epileptic encephalopathy, early infantile, 74 (GABRG2)
  • Epileptic encephalopathy, early infantile, 9 (GABRG2)
  • Epileptic encephalopathy, infantile or early childhood, 1 (PPP3CA)
  • Episodic ataxia, type 9 (SCN2A)
  • Episodic kinesigenic dyskinesia 1 (PRRT2)
  • Ethylmalonic encephalopathy (ETHE1)
  • Facial dysmorphism, hypertrichosis, epilepsy, intell./devel. delay, gingival overgrowth s. (KCNK4)
  • Febrile seizures [plus] (HCN2)
  • Febrile seizures, familial, 11 (CPA6)
  • Febrile seizures, familial, 3A (SCN1A)
  • Febrile seizures, familial, 8 (GABRG2)
  • Focal cortical dysplasia, type II, somatic (MTOR)
  • Focal cortical dysplasia, type II, somatic (TSC1)
  • Focal cortical dysplasia, type II, somatic (TSC2)
  • Fucosidosis (FUCA1)
  • GABA-transaminase deficiency (ABAT)
  • GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • GM1-gangliosidosis, type I (GLB1)
  • GM2-gangliosidosis, AB variant (GM2A)
  • GM2-gangliosidosis, several forms (HEXA)
  • Galloway-Mowat syndrome 1 (WDR73)
  • Gaucher disease, atypical (PSAP)
  • Gaucher disease, type II , III, IIIC (GBA)
  • Generalized epilepsy with febrile seizures plus, type 10 (HCN1)
  • Generalized epilepsy with febrile seizures plus, type 9 (STX1B)
  • Gillessen-Kaesbach-Nishimura syndrome (ALG9)
  • Glutamine deficiency, congenital (GLUL(
  • Glycine encephalopathy (AMT)
  • Glycine encephalopathy (GLDC)
  • Glycosylphosphatidylinositol biosynthesis defect 11 (PIGW)
  • Glycosylphosphatidylinositol biosynthesis defect 15 (GPAA1)
  • Glycosylphosphatidylinositol biosynthesis defect 17 (PIGH)
  • HMG-CoA lyase deficiency (HMGCL)
  • Heterotopia, periventricular, 1 (FLNA)
  • Hex A pseudodeficiency (HEXA)
  • Hiatt-Neu-Cooper neurodevelopmental syndrome (RALA)
  • Homocystinuria due to MTHFR deficiency (MTHFR)
  • Homocystinuria, cblD type, variant 1 (MMADHC)
  • Hyperglycinemia, lactic acidosis + seizures (LIAS)
  • Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
  • Hyperinsulinism-hyperammonemia syndrome (GLUD1)
  • Hyperphenylalaninemia, BH4-deficient, A (PTS)
  • Hyperphosphatasia with mental retardation syndrome 2 (PIGN, PIGO)
  • Hypomagnesemia 1, intestinal (TRPM6)
  • Hypomagnesemia, seizures + mental retardation (CNNM2)
  • Hypomagnesemia, seizures + mental retardation 2 (ATP1A1)
  • Hypophosphatasia, adult (ALPL)
  • Hypophosphatasia, childhood (ALPL)
  • Hypophosphatasia, infantile (ALPL)
  • Hypotonia, hypoventilation, impaired intell. devel., dysautonomia, epilepsy, eye abnorm. (P4HTM)
  • Hypotonia, infantile, with psychomotor retardation + characteristic facies 2 (UNC80)
  • Hypotonia, infantile, with psychomotor retardation + characteristic facies 3 (TBCK)
  • Intellectual developmental disorder 60 with seizures (AP2M1)
  • Intellectual developmental disorder with cardiac arrhythmia (GNB5)
  • Intellectual developmental disorder with dysmorphic facies + behavioral abnormalities (FBXO11)
  • Intellectual developmental disorder with macrocephaly, seizures + speech delay (PAK1)
  • Intellectual developmental disorder with/-out epilepsy or cerebellar ataxia (RORA)
  • Intellectual developmental disorder, XL, syndrome, Snijders Blok type (DDX3X)
  • Intellectual developmental disorder, dysmorphic facies, seizures, distal limb anomalies (OTUD6B)
  • Jaberi-Elahi syndrome (GTPBP2)
  • Joubert syndrome 9 (CC2D2A)
  • KINSSHIP s.: horseshoe KIdney, Nievergelt/Savarirayan, Seizure, Hypertrich., Intell., Pulmon. (AFF3)
  • Kanzaki disease (NAGA)
  • Kleefstra syndrome 1 (EHMT1)
  • Knobloch syndrome, type 1 (COL18A1)
  • Kohlschutter-Tonz syndrome (ROGDI)
  • Krabbe disease (GALC)
  • Krabbe disease, atypical (PSAP)
  • LEOPARD syndrome 3 (BRAF)
  • Lacticacidemia due to PDX1 deficiency (PDHX)
  • Leukodystrophy, hypomyelinating, 12 (VPS11)
  • Leukodystrophy, hypomyelinating, 14 (UFM1)
  • Leukodystrophy, hypomyelinating, 18 (DEGS1)
  • Leukodystrophy, hypomyelinating, 3 (AIMP1)
  • Leukodystrophy, hypomyelinating, 6 (TUBB4A)
  • Leukoencephalopathy with vanishing white matter (EIF2B1, -2, -3,-4, -5)
  • Leukoencephalopathy, cystic, without megalencephaly (RNASET2)
  • Liang-Wang syndrome (KCNMA1)
  • Lissencephaly 1 (PAFAH1B1)
  • Lissencephaly 2 [Norman-Roberts type] (RELN)
  • Lissencephaly 3 (TUBA1A)
  • Lissencephaly 4 [with microcephaly] (NDE1)
  • Lissencephaly 9 with complex brainstem malformation (MACF1)
  • Lissencephaly, XL (DCX)
  • Lissencephaly, XL 2 (ARX)
  • Lujan-Fryns syndrome (MED12)
  • MEHMO syndrome (EIF2S3)
  • Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
  • Maple syrup urine disease, type II (DBT)
  • Maple syrup urine disease, type Ia (BCKDHA)
  • Maple syrup urine disease, type Ib (BCKDHB)
  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
  • Megalencephalic leukoencephalopathy, subcort. cysts 2B, remitting, with/-out ment. retard. (HEPACAM)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (PIK3R2)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (AKT3)
  • Menke-Hennekam syndrome 1 (CREBBP)
  • Menkes disease (ATP7A)
  • Mental retardation + microcephaly with pontine + cerebellar hypoplasia (CASK)
  • Mental retardation, AD 1 (MBD5)
  • Mental retardation, AD 13 (DYNC1H1)
  • Mental retardation, AD 22 (ZBTB18)
  • Mental retardation, AD 29 (SETBP1)
  • Mental retardation, AD 31 (PURA)
  • Mental retardation, AD 38 (EEF1A2)
  • Mental retardation, AD 41 (TBL1XR1)
  • Mental retardation, AD 42 (GNB1)
  • Mental retardation, AD 45 (CIC)
  • Mental retardation, AD 46 (KCNQ5)
  • Mental retardation, AD 47 (STAG1)
  • Mental retardation, AD 5 (SYNGAP1)
  • Mental retardation, AD 55, with seizures (NUS1)
  • Mental retardation, AD 56 (CLTC)
  • Mental retardation, AD 6 (GRIN2B)
  • Mental retardation, AD 7 (DYRK1A)
  • Mental retardation, AR 53 (PIGG)
  • Mental retardation, AR 57 (MBOAT7)
  • Mental retardation, AR 67 (EIF3F)
  • Mental retardation, XL 1/78 (IQSEC2)
  • Mental retardation, XL 3 [methylmalonic acidemia and homocysteinemia, cblX type] (HCFC1)
  • Mental retardation, XL 98 (NEXMIF)
  • Mental retardation, XL, Snyder-Robinson type (SMS)
  • Mental retardation, XL, syndromic 13 (MECP2)
  • Mental retardation, XL, syndromic 15, Cabezas type (CUL4B)
  • Mental retardation, XL, syndromic, Bain type (HNRNPH2)
  • Mental retardation, XL, syndromic, Christianson type (SLC9A6)
  • Mental retardation, XL, syndromic, Houge type (CNKSR2)
  • Mental retardation, XL, syndromic, Lubs type (MECP2)
  • Mental retardation, XL, syndromic, Nascimento-type (UBE2A)
  • Mental retardation, XL, with cerebellar hypoplasia + distinctive facial appearance (OPHN1)
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malform. (MEF2C)
  • Mental retardation-hypotonic facies syndrome, XL (ATRX)
  • Metabolic encephalomyopathic crises, recurrent, rhabdomyolysis, card. arrhythm., neurodeg. (TANGO2)
  • Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
  • Methylmalonic aciduria + homocystinuria, cblC type (MMACHC)
  • Methylmalonic aciduria + homocystinuria, cblD type (MMADHC)
  • Methylmalonic aciduria, cblD type, variant 2 (MMADHC)
  • Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
  • Microcephaly, epilepsy + diabetes syndrome (IER3IP1)
  • Microcephaly, progressive, seizures + cerebral + cerebellar atrophy (QARS)
  • Microcephaly, seizures developmental delay (PNKP)
  • Microcephaly, short stature + polymicrogyria with seizures (RTTN)
  • Microcephaly-capillary malformation syndrome (STAMBP)
  • Migraine, familial basilar (ATP1A2)
  • Migraine, familial hemiplegic, 1 (CACNA1A)
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
  • Migraine, familial hemiplegic, 2 (ATP1A2)
  • Migraine, familial hemiplegic, 3 (SCN1A)
  • Mitochondrial DNA depletion s. 5; encephalomyopathic with/-out methylmalonic aciduria (SUCLA2)
  • Mitochondrial DNA depletion syndrome 13 [encephalomyopathic type] (FBXL4)
  • Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type] (POLG)
  • Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4)
  • Mitochondrial complex I deficiency, nuclear type 10 (NDUFAF2)
  • Mitochondrial complex I deficiency, nuclear type 12 (NDUFA1)
  • Mitochondrial complex I deficiency, nuclear type 16 (NDUFAF5)
  • Mitochondrial complex I deficiency, nuclear type 2 (NDUFS8)
  • Mitochondrial complex I deficiency, nuclear type 22 (NDUFA10)
  • Mitochondrial complex I deficiency, nuclear type 4 (NDUFV1)
  • Mitochondrial complex III deficiency, nuclear type 1 (BCS1L)
  • Mitochondrial complex IV deficiency, nuclear type 1 (SURF1)
  • Mitochondrial complex IV deficiency, nuclear type 12 (PET100)
  • Molybdenum cofactor deficiency A (MOCS1)
  • Molybdenum cofactor deficiency B (MOCS2)
  • Molybdenum cofactor deficiency C (GPHN)
  • Mowat-Wilson syndrome (ZEB2)
  • Mucopolysaccharidosis type IIIA [Sanfilippo A] (SGSH)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2 (PIGA)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3 (PIGT)
  • Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (BOLA3)
  • Multiple respiratory chain complex deficiencies (KARS)
  • Muscular dystrophy-dystroglycanopathy (congen. with brain + eye anomalies), type A, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy (congen. with brain + eye anomalies), type A, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy (congen. with brain + eye anomalies), type A, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy (congen. with ment. retard.), type B, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy (congen. with ment. retard.), type B, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy (congen. without ment. retard.), type B, 4 (FKTN)
  • Myasthenic syndrome, congenital, 13, with tubular aggregate (DPAGT1)
  • Myasthenic syndrome, congenital, 18 (SNAP25)
  • Myasthenic syndrome, congenital, 23, presynaptic (SLC25A1)
  • Myoclonic epilepsy, infantile, familial (TBC1D24)
  • Myoclonic-atonic epilepsy (SLC6A1)
  • Myoclonus, familial, 2 (SCN8A)
  • Myokymia (KCNQ2)
  • NESCAV syndrome (KIF1A)
  • Nephrotic syndrome, type 15 (MAGI2)
  • Neurodegeneration due to cerebral folate transport deficiency (FOLR1)
  • Neurodegeneration with brain iron accumulation 5 (WDR45)
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia + seizures (ADRPS)
  • Neurodevelopmental disorder with absent language + variable seizures (WASF1)
  • Neurodevelopmental disorder with brain anomalies, seizures + scoliosis (PIGU)
  • Neurodevelopmental disorder with cerebellar atrophy with/-out seizures (BRAT1)
  • Neurodevelopmental disorder with hypotonia, autistic features with/-out hyperkineses (VAMP2)
  • Neurodevelopmental disorder with hypotonia, impaired expressive language with/-out seizures (DEAF1)
  • Neurodevelopmental disorder with hypotonia, seizures + absent language (HECW2)
  • Neurodevelopmental disorder with impaired speech + hyperkinetic movements (ZNF142)
  • Neurodevelopmental disorder with involuntary movements (GNAO1)
  • Neurodevelopmental disorder with microcephaly, seizures + cortical atrophy (VARS)
  • Neurodevelopmental disorder with poor language + loss of hand skills (GABBR2)
  • Neurodevelopmental disorder with seizures + nonepileptic hyperkinetic movements (CACNA1B)
  • Neurodevelopmental disorder with seizures, speech + walking impairment (DHPS)
  • Neurodevelopmental disorder with severe motor impairment + absent language (DHX30)
  • Neurodevelopmental disorder with structural brain anomalies with/-out seizures + spasticity (PTPN23)
  • Neurodevelopmental disorder with/-out hyperkinetic movements + seizures, AD (GRIN1)
  • Neurodevelopmental disorder with/-out seizures + gait abnormalities (GRIA4)
  • Neurodevelopmental disorder, ataxic gait, absent speech, decreased cortical white matter (RAB11B)
  • Neurodevelopmental disorder, epilepsy, cataracts, feeding diff., delayed brain myelination (NACC1)
  • Neurodevelopmental disorder, language delay with/-out structural brain abnormalities (PPP2CA)
  • Neurodevelopmental disorder, mt, abnormal movements, lactic acidosis, with/_out seizures (WARS2)
  • Neurodevelopmental disorder, progressive microcephaly, spasticity + brain anomalies (PLAA)
  • Neurooculocardiogenitourinary syndrome (WDR37)
  • Neutropenia, severe congenital 3, AR (HAX1)
  • Nicolaides-Baraitser syndrome (SMARCA2)
  • O'Donnell-Luria-Rodan syndrome (KMT2E)
  • Occipital horn syndrome (ATP7A)
  • Odontohypophosphatasia (ALPL)
  • Ohdo syndrome, XL (MED12)
  • Opitz-Kaveggia syndrome (MED12)
  • Optic atrophy 10 with/-out ataxia, mental retardation + seizures (RTN4IP1)
  • Ovarioleukodystrophy (EIF2B2, -4, -5)
  • Paroxysmal nonkinesigenic dyskinesia, 3, with/_out generalized epilepsy (KCNMA1)
  • Periventricular heterotopia with microcephaly (ARFGEF2)
  • Peroxisomal acyl-CoA oxidase deficiency (ACOX1)
  • Perrault syndrome 1 (HSD17B4)
  • Phenylketonuria (PAH)
  • Phosphoglycerate dehydrogenase deficiency (PHGDH)
  • Pierpont syndrome (TBL1XR1)
  • Pitt-Hopkins like syndrome 1 (CNTNAP2)
  • Pitt-Hopkins syndrome (TCF4)
  • Pitt-Hopkins-like syndrome 2 (NRXN1)
  • Poirier-Bienvenu neurodevelopmental syndrome (CSNK2B)
  • Polyhydramnios, megalencephaly + symptomatic epilepsy (STRADA)
  • Pontocerebellar hypoplasia type 2A, 4, 5 (TSEN54)
  • Pontocerebellar hypoplasia type 2D (SEPSECS)
  • Pontocerebellar hypoplasia, type 1B (EXOSC3)
  • Pontocerebellar hypoplasia, type 6 (RARS2)
  • Pontocerebellar hypoplasia, type 9 (AMPD2)
  • Primary aldosteronism, seizures + neurologic abnormalities (CACNA1D)
  • Progressive external ophthalmoplegia, AD 1 (POLG)
  • Progressive external ophthalmoplegia, AR 1 (POLG)
  • Propionicacidemia (PCCA, PCCB)
  • Pseudo-TORCH syndrome 1 (OCLN)
  • Pyridoxamine 5'-phosphate oxidase deficiency (PNPO)
  • Pyruvate dehydrogenase E1-alpha deficiency (PCDH1)
  • Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
  • Raynaud-Claes syndrome (CLCN4)
  • Rett syndrome (MECP2)
  • Rett syndrome, atypical (MECP2)
  • Rett syndrome, congenital variant (FOXG1)
  • Rett syndrome, preserved speech variant (MECP2)
  • Rigidity + multifocal seizure syndrome, lethal neonatal (BRAT1)
  • Rubinstein-Taybi syndrome 1 (CREBBP)
  • SESAME syndrome (KCNJ10)
  • Salt + pepper developmental regression syndrome (ST3GAL5)
  • Sandhoff disease, infantile, juvenile + adult forms (HEXB)
  • Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (HRAS, KRAS)
  • Schindler disease, type I + III (NAGA)
  • Schinzel-Giedion midface retraction syndrome (SETBP1)
  • Schuurs-Hoeijmakers syndrome (PACS1)
  • Seizures, benign familial infantile, 2 (PRRT2)
  • Seizures, benign familial infantile, 3 (SCN2A)
  • Seizures, benign familial infantile, 5 (SCN8A)
  • Seizures, benign neonatal, 1 (KCNQ2)
  • Seizures, benign neonatal, 2 (KCNQ3)
  • Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
  • Short stature, brachydactyly, intellectual developmental disability, seizures (PRMT7)
  • Smith-Kingsmore syndrome (MTOR)
  • Sotos syndrome 1 (NSD1)
  • Spastic paraplegia + psychomotor retardation with/-out seizures (HACE1)
  • Spastic paraplegia 63 (AMPD2)
  • Spastic tetraplegia, thin corpus callosum + progressive microcephaly (SLC1A4)
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SLC1A4)
  • Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
  • Spinocerebellar ataxia, AR 12 (WWOX)
  • Spinocerebellar ataxia, AR 23 (TDP2)
  • Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1
  • Sturge-Weber syndrome, somatic, mosaic (GNAQ)
  • Subcortical laminal heterotopia, XL (DCX)
  • Subcortical laminar heterotopia (PAFAH1B1)
  • Succinic semialdehyde dehydrogenase deficiency (ALDH5A1)
  • Sulfite oxidase deficiency (SUOX)
  • Tay-Sachs disease (HEXA)
  • Temtamy syndrome (C12orf57)
  • Tuberous sclerosis-1 (TSC1)
  • Tuberous sclerosis-2 (TSC2)
  • Vasculopathy, retinal, with cerebral leukodystrophy (TREX1)
  • Vici syndrome (EPG5)
  • Vulto-van Silfout-de Vries syndrome (DEAF1)
  • Warburg micro syndrome 3 (RAB18)
  • [Early-onset epileptic encephalopathy] (TRIM8)
  • [Intellectual diasability, seizures] (HNRNPR)
Erbgänge, Vererbungsmuster etc.
  • -
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Ass
  • AD und/oder AR und/oder Sus
  • AD und/oder Ass
  • AD und/oder Dig
  • AD und/oder Mult
  • AD und/oder Mult und/oder SMu
  • AD und/oder SMu
  • AD und/oder SMu und/oder Meth
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR
  • AR und/oder Dig
  • AR und/oder Mi
  • AR und/oder Sus
  • XL
  • XL und/oder SMu
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G40.3

Bioinformatik und klinische Interpretation

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