MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Lissencephaly (D054082)
Parent Node:
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Microcephaly (D008831)
..Starting node
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LISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)

       Child Nodes:



 Sister Nodes: 
..expandAbsent Eyebrows and Eyelashes with Mental Retardation (C563111)
..expandAchalasia microcephaly (C536010)
..expandAgammaglobulinemia, microcephaly, and severe dermatitis (C538055)
..expandAL-RAQAD SYNDROME (OMIM:616459)
..expandAlaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..expandAmish lethal microcephaly (C538247)  LSDB  L: 00112;
..expandAnonychia, Total, with Microcephaly (C564606)
..expandAphalangia syndactyly microcephaly (C537787)
..expandASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
..expandAtaxia-Microcephaly-Cataract Syndrome (C563086)
..expandAutosomal Recessive Primary Microcephaly (C579935)
..expandBaetz-Greenwalt syndrome (C537795)
..expandBaraitser Brett Piesowicz syndrome (C537905)
..expandBASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
..expandBattaglia Neri syndrome (C537662)
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..expandBixler Christian Gorlin syndrome (C537632)
..expandBoudhina Yedes Khiari syndrome (C537939)
..expandBrachydactyly, Type A2, With Microcephaly (C565894)
..expandBranchial arch syndrome X-linked (C537102)
..expandBullous Dystrophy, Hereditary Macular Type (C563065)
..expandCAMFAK syndrome (C537965)
..expandCardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..expandCataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..expandChromosomal Instability with Tissue-Specific Radiosensitivity (C565848)
..expandChromosome 15q26-Qter Deletion Syndrome (C567232)
..expandCHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..expandCHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..expandCK SYNDROME (OMIM:300831)
..expandCohen syndrome (C536438)
..expandCraniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities (C565667)
..expandDislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..expandDubowitz syndrome (C535718)
..expandEllis Yale Winter syndrome (C536205)
..expandEncephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..expandExtrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
..expandFilippi syndrome (C538152)
..expandFORSYTHE-WAKELING SYNDROME (OMIM:613606)
..expandGalloway Mowat syndrome (C537548)
..expandGOMBO syndrome (C537284)
..expandGrowth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
..expandGrowth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..expandHadziselimovic Syndrome (C567850)
..expandHalal syndrome (C535622)
..expandHersh Podruch Weisskopk syndrome (C538114)
..expandHoyeraal Hreidarsson syndrome (C536068)
..expandHypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
..expandHypospadias-Mental Retardation Syndrome (C563067)
..expandJejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..expandJorgenson Lenz syndrome (C536292)
..expandKaufman oculocerebrofacial syndrome (C537013)
..expandLambotte syndrome (C537549)
..expandLEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
..expandLINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
..expandLissencephaly 3 (C566908)
..expandLISSENCEPHALY 6 WITH MICROCEPHALY (OMIM:616212)
..expandLowry Wood syndrome (C537038)
..expandLymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..expandMacDermot Winter syndrome (C537714)
..expandMANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
..expandMarfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
..expandMEHMO syndrome (C537451)
..expandMental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..expandMental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..expandMental Retardation, X-Linked, Syndromic 9 (C567474)
..expandMental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 3 (C537320)
..expandMicrocephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..expandMicrocephalic primordial dwarfism Toriello type (C537321)
..expandMICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
..expandMICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615414)
..expandMICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616080)
..expandMICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
..expandMICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616402)
..expandMICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616486)
..expandMICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616681)
..expandMICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617090)
..expandMICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614673)
..expandMICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614852)
..expandMicrocephaly albinism digital anomalies syndrome (C537322)
..expandMicrocephaly autosomal dominant (C537323)
..expandMicrocephaly cervical spine fusion anomalies (C537325)
..expandMicrocephaly deafness syndrome (C537326)
..expandMicrocephaly microphthalmos blindness (C537541)
..expandMicrocephaly nonsyndromal (C537542)
..expandMicrocephaly pontocerebellar hypoplasia dyskinesia (C537543)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMicrocephaly with Chemotactic Defect and Transient Hypogammaglobulinemia (C565381)
..expandMicrocephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..expandMicrocephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..expandMicrocephaly with Mental Retardation and Digital Anomalies (C567101)
..expandMicrocephaly with Simplified Gyral Pattern (C566332)
..expandMicrocephaly with spastic quadriplegia (C537546)
..expandMICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
..expandMicrocephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..expandMicrocephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..expandMICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
..expandMicrocephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..expandMicrocephaly, Macrotia, And Mental Retardation (C566525)
..expandMicrocephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMicrocephaly, Primary Autosomal Recessive, 1 (C565384)
..expandMicrocephaly, Primary Autosomal Recessive, 2 (C565794)
..expandMicrocephaly, Primary Autosomal Recessive, 3 (C565746)
..expandMicrocephaly, Primary Autosomal Recessive, 4 (C565792)
..expandMicrocephaly, Primary Autosomal Recessive, 5 (C563871)
..expandMicrocephaly, Primary Autosomal Recessive, 5, with Simplified Gyral Pattern (C567221)
..expandMicrocephaly, Primary Autosomal Recessive, 6 (C564247)
..expandMicrocephaly, Primary Autosomal Recessive, 7 (C567198)
..expandMICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
..expandMicrocephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMicrocephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects (C566377)
..expandMICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
..expandMICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
..expandMICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
..expandMICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
..expandMicrocephaly-Micromelia Syndrome (C565382)
..expandMicrohydranencephaly (C537555)
..expandMicrophthalmia and mental deficiency (C537462)
..expandMilner Khallouf Gibson syndrome (C537473)
..expandMirhosseini-Holmes-Walton syndrome (C538367)
..expandMowat-Wilson syndrome (C536990)
..expandMuscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..expandNeu Laxova syndrome (C536405)
..expandNijmegen Breakage Syndrome-Like Disorder (C567767)
..expandOculodigitoesophagoduodenal syndrome (C537734)
..expandOculopalatocerebral Syndrome (C564935)
..expandOsteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..expandPaine syndrome (C538101)
..expandPartington Anderson syndrome (C536299)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPorencephaly (D065708) Child1
..expandPSEUDO-TORCH SYNDROME 1 (OMIM:251290)
..expandRaine syndrome (C535282)
..expandRAJAB SYNDROME (OMIM:613658)
..expandSammartino De Crecchio Syndrome (C537229)
..expandSay Barber Miller syndrome (C536618)
..expandSay syndrome (C536621)
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSeckel syndrome 1 (C537533)
..expandSeckel syndrome 2 (C537534)
..expandSeckel Syndrome 3 (C563881)
..expandSECKEL SYNDROME 4 (OMIM:613676)
..expandSecretory Diarrhea, Myopathy, and Deafness (C564382)
..expandSeemanova Lesny syndrome (C537536)
..expandSEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
..expandSevere Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970)
..expandSilengo Lerone Pelizza syndrome (C537336)
..expandSpastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..expandSpinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
..expandSpondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..expandTeebi Kaurah syndrome (C536948)
..expandTrichodental syndrome (C536551)
..expandTsukahara Syndrome (C566376)
..expandWarburg Sjo Fledelius syndrome (C536681)
..expandWarburton Anyane Yeboa syndrome (C536682)
..expandWEBB-DATTANI SYNDROME (OMIM:615926)
..expandWinship Viljoen Leary syndrome (C536711)
..expandYOU-HOOVER-FONG SYNDROME (OMIM:616954)
..expandZerres Rietschel Majewski syndrome (C536724)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7110
Name:LISSENCEPHALY 6 WITH MICROCEPHALY
Definition:
Alternative IDs:
ParentIDs:MESH:D008831|MESH:D054082
TreeNumbers:C05.660.207.620/616212 |C10.500.507.400.500/616212 |C10.500.507.450.499/616212 |C16.131.621.207.620/616212 |C16.131.666.507.400.500/616212 |C16.131.666.507.450.499/616212
Synonyms:LIS6
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease
Reference: MedGen: 616212
MeSH: 616212
OMIM: 616212;
MSeqDR LSDB:  
Genes: KATNB1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
4 HP:0009879Cortical gyral simplification
5 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
6 HP:0001263Global developmental delay
NAMDC:  Mental retardation
7 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
HP:0040283
8 HP:0002079Hypoplasia of the corpus callosum
9 HP:0002509Limb hypertoniaHP:0040283
10 HP:0000252Microcephaly
11 HP:0001270Motor delayHP:0040283
12 HP:0001302Pachygyria
13 HP:0001338Partial agenesis of the corpus callosum
14 HP:0002126Polymicrogyria
15 HP:0001250Seizures
NAMDC:  Seizures
HP:0040283
16 HP:0000340Sloping forehead
17 HP:0001257Spasticity
NAMDC:  Spasticity
HP:0040283
18 HP:0002119Ventriculomegaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_005886.2(KATNB1):c.1A>G (p.Met1Val)10300KATNB1Pathogenic879255518RCV000157600; NMedGen:C4015525,OMIM:616212165777115657771156OMIM Allelic Variant:602703.0004C4015525 616212 Lissencephaly 6, with microcephaly;
NM_005886.3(KATNB1):c.97G>T (p.Gly33Trp)10300KATNB1Pathogenic730880259RCV000157601; NMedGen:C4015525,OMIM:616212165777565557775655OMIM Allelic Variant:602703.0005,UniProtKB (protein):Q9BVA0#VAR_073319
NM_005886.2(KATNB1):c.432+1G>A10300KATNB1Pathogenic879255519RCV000157602; NMedGen:C4015525,OMIM:616212165778521557785215OMIM Allelic Variant:602703.0006C4015525 616212 Lissencephaly 6, with microcephaly;
NM_005886.2(KATNB1):c.447del (p.Val150Cysfs)10300KATNB1Pathogenic879255517RCV000157599; NMedGen:C4015525,OMIM:616212165778556757785567OMIM Allelic Variant:602703.0003C4015525 616212 Lissencephaly 6, with microcephaly;
NM_005886.3(KATNB1):c.1604C>T (p.Ser535Leu)10300KATNB1Pathogenic730880257RCV000157597; NMedGen:C4015525,OMIM:616212165778979057789790OMIM Allelic Variant:602703.0001,UniProtKB (protein):Q9BVA0#VAR_073320
NM_005886.3(KATNB1):c.1619T>G (p.Leu540Arg)10300KATNB1Pathogenic730880258RCV000157598; NMedGen:C4015525,OMIM:616212165778980557789805OMIM Allelic Variant:602703.0002,UniProtKB (protein):Q9BVA0#VAR_073321
MSeqDR Portal