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Malformations of Cortical Development (D054220)
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CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)

       Child Nodes:



 Sister Nodes: 
..expandCK SYNDROME (OMIM:300831)
..expandCortical Dysplasia of Taylor without Balloon Cells (C564583)
..expandCORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (OMIM:614039)
..expandCORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 (OMIM:615282)
..expandCORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 (OMIM:615411)
..expandCORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 (OMIM:615412)
..expandCORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
..expandCORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
..expandCORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
..expandCORTICAL MALFORMATIONS, OCCIPITAL (OMIM:614115)
..expandCuratolo Cilio Pessagno syndrome (C536701)
..expandFamilial schizencephaly (C538514)
..expandGrowth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..expandMalformations of Cortical Development, Group I (D065703) Child172  LSDB C:1
..expandMalformations of Cortical Development, Group II (D054081) Child35
..expandMalformations of Cortical Development, Group III (D065704) Child4
..expandMegalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..expandMuller Barth Menger syndrome (C537370)
..expandNon-lissencephalic cortical dysplasia (C536243)
..expandPerisylvian syndrome (C536658)
..expandPitt-Hopkins-Like Syndrome 1 (C567657)
..expandPolymicrogyria With Optic Nerve Hypoplasia (C567715)
..expandPolymicrogyria, Asymmetric (C567658)
..expandPolymicrogyria, Bilateral Frontoparietal (C564652)
..expandPolymicrogyria, Bilateral Occipital (C567201)
..expandPSEUDO-TORCH SYNDROME 1 (OMIM:251290)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3081
Name:CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
Definition:
Alternative IDs:DO:DOID:0090132
ParentIDs:MESH:D054220
TreeNumbers:C10.500.507/610031 |C16.131.666.507/610031
Synonyms:CDCBM7 |PMGYSA |POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC
Slim Mappings:Congenital abnormality|Nervous system disease
Reference: MedGen: 610031
MeSH: 610031
OMIM: 610031;
MSeqDR LSDB:  
Genes: TUBB2B;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0000478Abnormality of the eye
NAMDC:  Ophthalmologic
4 HP:0001274Agenesis of corpus callosum
5 HP:0001321Cerebellar hypoplasia
6 HP:0001491Congenital fibrosis of extraocular musclesHP:0040283
7 HP:0002307Drooling
8 HP:0006930Frontoparietal cortical dysplasia
9 HP:0001263Global developmental delay
NAMDC:  Mental retardation
10 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
11 HP:0001269Hemiparesis
12 HP:0002079Hypoplasia of the corpus callosum
13 HP:0001249Intellectual disability
14 HP:0007941Limited extraocular movementsHP:0040283
15 HP:0000252Microcephaly
16 HP:0001270Motor delay
17 HP:0001302Pachygyria
18 HP:0001250Seizures
NAMDC:  Seizures
19 HP:0001328Specific learning disability
20 HP:0006927Unilateral polymicrogyria
21 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys)347733TUBB2BPathogenic/Likely pathogenicrs398122369RCV000074466|RCV001291304; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573|Human Phenotype Ontology:HP:0001339,Human Phenotype Ontology:HP:0002537,MONDO:MONDO:0018838,MedGen:C0266463,OMIM:PS607432, Orphanet:48471632250623225062CT6:g.3225062C>TClinGen:CA345331,OMIM:612850.0007C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.1249G>A (p.Asp417Asn)347733TUBB2BPathogenicrs397514567RCV000032932; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632250743225074CT6:g.3225074C>TClinGen:CA250738,OMIM:612850.0004C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.1248C>T (p.Asn416=)347733TUBB2BUncertain significancers17145779RCV000147834; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632250753225075GANC_000006.11:g.3225075G>AClinGen:CA251175C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.1223T>C (p.Phe408Ser)347733TUBB2BUncertain significance-1RCV001839350; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632251003225100AG3225100-
NM_178012.5(TUBB2B):c.1162A>C (p.Met388Leu)347733TUBB2BLikely pathogenic-1RCV001353172; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632251613225161TG3225161-
NM_178012.5(TUBB2B):c.1139G>T (p.Arg380Leu)347733TUBB2BLikely pathogenicrs587784498RCV000147833; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632251843225184CANC_000006.11:g.3225184C>AClinGen:CA251173C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.1070C>T (p.Pro357Leu)347733TUBB2BLikely pathogenicrs1581525728RCV000853391; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632252533225253GA6:g.3225253G>A-
NM_178012.5(TUBB2B):c.965C>T (p.Ser322Phe)347733TUBB2BLikely pathogenicrs587784502RCV000147845; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632253583225358GANC_000006.11:g.3225358G>AClinGen:CA251187C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys)347733TUBB2BLikely pathogenicrs1554126886RCV000503116|RCV001291305; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573|Human Phenotype Ontology:HP:0001339,Human Phenotype Ontology:HP:0002537,MONDO:MONDO:0018838,MedGen:C0266463,OMIM:PS607432, Orphanet:48471632254523225452GTNC_000006.11:g.3225452G>TClinGen:CA362586631C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.859C>T (p.Pro287Ser)347733TUBB2BUncertain significancers587784501RCV000147844; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632254643225464GANC_000006.11:g.3225464G>AClinGen:CA251185C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.793T>C (p.Phe265Leu)347733TUBB2BPathogenicrs137853196RCV000000456; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632255303225530AG6:g.3225530A>GClinGen:CA250426,UniProtKB:Q9BVA1#VAR_063393,OMIM:612850.0003C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser)347733TUBB2BConflicting interpretations of pathogenicityrs397514568RCV000032933; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632255563225556TC6:g.3225556T>CClinGen:CA250740,OMIM:612850.0005C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.761C>A (p.Ala254Glu)347733TUBB2BUncertain significancers1757274660RCV001331889; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632255623225562GT3225562-
NM_178012.5(TUBB2B):c.743C>T (p.Ala248Val)347733TUBB2BConflicting interpretations of pathogenicityrs777598117RCV000429024|RCV000987650|RCV001731678; NMedGen:CN517202|MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573|MedGen:CN169374632255803225580GA6:g.3225580G>AClinGen:CA3619179CN517202 not provided;
NM_178012.5(TUBB2B):c.728C>T (p.Pro243Leu)347733TUBB2BUncertain significancers1554126902RCV000585858; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632255953225595GA6:g.3225595G>AClinGen:CA362587226C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.716G>T (p.Cys239Phe)347733TUBB2BPathogenicrs878853284RCV000225257; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632256073225607CA6:g.3225607C>AClinGen:CA10581581,OMIM:612850.0008C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.683T>C (p.Leu228Pro)347733TUBB2BPathogenicrs137853195RCV000000455; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632256403225640AG6:g.3225640A>GClinGen:CA250425,UniProtKB:Q9BVA1#VAR_063392,OMIM:612850.0002C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.611A>T (p.Asn204Ile)347733TUBB2BLikely pathogenicrs1757276859RCV001253089; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632257123225712TA6:g.3225712T>A-
NM_178012.5(TUBB2B):c.602G>T (p.Cys201Phe)347733TUBB2BLikely pathogenicrs201922441RCV001072151; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632257213225721CA6:g.3225721C>A-
NM_178012.5(TUBB2B):c.553G>A (p.Ala185Thr)347733TUBB2BLikely benignrs146544321RCV000987651|RCV001566646; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573|MedGen:CN517202632257703225770CT6:g.3225770C>T-
NM_178012.5(TUBB2B):c.515C>T (p.Ser172Leu)347733TUBB2BLikely pathogenicrs1554126925RCV000503576; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632258083225808GANC_000006.11:g.3225808G>AClinGen:CA362588231C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.514T>C (p.Ser172Pro)347733TUBB2BPathogenicrs137853194RCV000000454; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632258093225809AG6:g.3225809A>GClinGen:CA250424,UniProtKB:Q9BVA1#VAR_063389,OMIM:612850.0001C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.498C>T (p.Thr166=)347733TUBB2BUncertain significancers587784499RCV000147837; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632258253225825GANC_000006.11:g.3225825G>AClinGen:CA251179C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.491T>C (p.Met164Thr)347733TUBB2BUncertain significancers1561826815RCV000678308; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632258323225832AG6:g.3225832A>G-C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.421G>A (p.Gly141Ser)347733TUBB2BUncertain significance-1RCV001375946; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632259023225902CT3225902-
NM_178012.5(TUBB2B):c.350T>C (p.Leu117Pro)347733TUBB2BLikely pathogenicrs397514569RCV000032934|RCV000439702; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573|MedGen:CN517202632259733225973AG6:g.3225973A>GClinGen:CA250742,OMIM:612850.0006CN517202 not provided;
NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg)347733TUBB2BPathogenic/Likely pathogenicrs797046075RCV000192694|RCV000422483; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573|MedGen:CN517202632260313226031CTNC_000006.11:g.3226031C>TClinGen:CA251306CN517202 not provided;
NM_178012.5(TUBB2B):c.208C>A (p.Pro70Thr)347733TUBB2BUncertain significancers1554126963RCV001253138; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632264623226462GT6:g.3226462G>T-
NM_178012.5(TUBB2B):c.178G>A (p.Val60Ile)347733TUBB2BUncertain significance-1RCV002052199; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632264923226492CT3226492-
NM_178012.5(TUBB2B):c.126G>T (p.Leu42Phe)347733TUBB2BUncertain significancers76191712RCV000147835; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632268353226835CANC_000006.11:g.3226835C>AClinGen:CA251177C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.111T>C (p.His37=)347733TUBB2BUncertain significancers11550264RCV000147832; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632268503226850AGNC_000006.11:g.3226850A>GClinGen:CA251171C2750247 610031 Polymicrogyria, asymmetric;
NM_178012.5(TUBB2B):c.81G>C (p.Glu27Asp)347733TUBB2BUncertain significancers1757291076RCV001262635; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632268803226880CG6:g.3226880C>G-
NM_178012.5(TUBB2B):c.43C>A (p.Gln15Lys)347733TUBB2BUncertain significancers1085307566RCV000489377|RCV000515493; NMedGen:CN517202|MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632277353227735GT6:g.3227735G>TClinGen:CA362590362CN169374 not specified;
NM_178012.5(TUBB2B):c.33G>C (p.Gln11His)347733TUBB2BLikely pathogenicrs1135401758RCV000496148|RCV000519098; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573|MedGen:CN517202632277453227745CG6:g.3227745C>GClinGen:CA362590385CN517202 not provided;
NM_178012.5(TUBB2B):c.32A>G (p.Gln11Arg)347733TUBB2Bnot provided-1RCV001825335; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573; MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039, Orphanet:300570632277463227746TC3227746-
NM_178012.5(TUBB2B):c.4C>A (p.Arg2Ser)347733TUBB2BUncertain significancers1581526962RCV000985023; NMONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031, Orphanet:300573632277743227774GT6:g.3227774G>T-
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