MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
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Developmental Disabilities (D002658)
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Dyskinesias (D020820)
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Seizures (D012640)
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DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617171)

       Child Nodes:



 Sister Nodes: 
..expandAdams Nance syndrome (C538224)
..expandAlcohol Withdrawal Seizures (D020270)
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..expandARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandConvulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..expandCopper deficiency, familial benign (C535468)
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617171)
..expandDysmyelination With Jaundice (C565610)
..expandGlycosylphosphatidylinositol deficiency (C537277)
..expandHyper-Beta-Alaninemia (C562684)
..expandHYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES (OMIM:614462)  LSDB  L: 00479;
..expandHyperleucine-Isoleucinemia (C562674)
..expandHYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
..expandHyperphosphatemia, Polyuria, and Seizures (C565494)
..expandHYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION (OMIM:616418)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..expandMENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
..expandMental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMethionine Malabsorption Syndrome (C562682)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
..expandMuller Barth Menger syndrome (C537370)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
..expandNEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
..expandOPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES (OMIM:616732)
..expandPACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPerniola Krajewska Carnevale syndrome (C536660)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..expandQazi Markouizos syndrome (C536259)
..expandSEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
..expandSeizures, Febrile (D003294) Child21
..expandSeSAME syndrome (C557674)
..expandStatus Epilepticus (D013226) Child1
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWHITE-SUTTON SYNDROME (OMIM:616364)
..expandX-linked mental retardation Gustavson type (C536759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3896
Name:DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
Definition:
Alternative IDs:
ParentIDs:MESH:D002658|MESH:D012640|MESH:D020820
TreeNumbers:C10.228.662.262/617171 |C10.597.350/617171 |C10.597.742/617171 |C23.888.592.350/617171 |C23.888.592.742/617171 |F03.625.421/617171
Synonyms:DYSEIDD
Slim Mappings:Mental disorder|Nervous system disease|Signs and symptoms
Reference: MedGen: 617171
MeSH: 617171
OMIM: 617171;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0001344Absent speech
4 HP:0000718Aggressive behavior
5 HP:0000713Agitation
6 HP:0100660Dyskinesia
7 HP:0002353EEG abnormality
8 HP:0001290Generalized hypotonia
9 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
10 HP:0001263Global developmental delay
NAMDC:  Mental retardation
11 HP:0001249Intellectual disability
12 HP:0004305Involuntary movements
13 HP:0000720Mood swings
14 HP:0002360Sleep disturbance
15 HP:0002133Status epilepticus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_021008.4(DEAF1):c.1621G>A (p.Gly541Ser)10522DEAF1Uncertain significancers771661969RCV000711422|RCV000763758; NMedGen:CN517202|MONDO:MONDO:0014357,MedGen:C4014414,OMIM:615828; MONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011644627644627CTNC_000011.9:g.644627C>T-
NM_021008.4(DEAF1):c.1617dup (p.Cys540fs)10522DEAF1Pathogenicrs1858396813RCV001171486; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011644630644631AAT11:g.644630_644631insTOMIM:602635.0015
NM_021008.4(DEAF1):c.1577C>T (p.Thr526Ile)10522DEAF1Uncertain significancers531423982RCV001196879; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011653978653978GA11:g.653978G>A-
NM_021008.4(DEAF1):c.1504-40C>T10522DEAF1Benign-1RCV001544184|RCV001544183; NMONDO:MONDO:0014357,MedGen:C4014414,OMIM:615828|MONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011654091654091GA654091-
NM_021008.4(DEAF1):c.1503+82C>A10522DEAF1Benign-1RCV001544186|RCV001544185; NMONDO:MONDO:0014357,MedGen:C4014414,OMIM:615828|MONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011674454674454GT674454-
NM_021008.4(DEAF1):c.1503+78C>T10522DEAF1Benign-1RCV001544187|RCV001544188; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:468620|MONDO:MONDO:0014357,MedGen:C4014414,OMIM:61582811674458674458GA674458-
NM_021008.4(DEAF1):c.1503+37C>T10522DEAF1Benign-1RCV001544189|RCV001544190; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:468620|MONDO:MONDO:0014357,MedGen:C4014414,OMIM:61582811674499674499GA674499-
NM_021008.4(DEAF1):c.1187del (p.Gly396fs)10522DEAF1Pathogenicrs1860194524RCV001171480; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011678762678762GCG11:g.678762_678762delOMIM:602635.0020
NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser)10522DEAF1Conflicting interpretations of pathogenicityrs138447102RCV000711416|RCV001836871; NMedGen:CN517202|MONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011678763678763CTNC_000011.9:g.678763C>T-
NM_021008.4(DEAF1):c.1104_1105dup (p.Asp369fs)10522DEAF1Pathogenicrs1860257102RCV001171485; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011679708679709TTCG11:g.679708_679709insCGOMIM:602635.0014
NM_021008.4(DEAF1):c.1051C>T (p.Arg351Ter)10522DEAF1Likely pathogenic-1RCV001591651; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011679763679763GA679763-
NM_021008.4(DEAF1):c.998-99C>T10522DEAF1Benign-1RCV001544191|RCV001544192; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:468620|MONDO:MONDO:0014357,MedGen:C4014414,OMIM:61582811679915679915GA679915-
NM_021008.4(DEAF1):c.997+97T>C10522DEAF1Benign-1RCV001544193|RCV001544194; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:468620|MONDO:MONDO:0014357,MedGen:C4014414,OMIM:61582811680866680866AG680866-
NM_021008.4(DEAF1):c.997+4A>C10522DEAF1Pathogenicrs886040972RCV000258057|RCV000761507; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:468620|MONDO:MONDO:0014357,MedGen:C4014414,OMIM:61582811680959680959TGNC_000011.9:g.680959T>GClinGen:CA10590108,OMIM:602635.0006C4310683 617171 Dyskinesia, seizures, and intellectual developmental disorder;
NM_021008.4(DEAF1):c.997+2_997+3del10522DEAF1Likely pathogenicrs1860334710RCV001251119; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011680960680961TCAT11:g.680960_680961del-
NM_021008.4(DEAF1):c.805-1G>C10522DEAF1Uncertain significance-1RCV001775475; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011684964684964CG684964-
NM_021008.4(DEAF1):c.719T>C (p.Phe240Ser)10522DEAF1Pathogenic-1RCV001839475; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:468620; MONDO:MONDO:0014357,MedGen:C4014414,OMIM:61582811686943686943AG686943-
NM_021008.4(DEAF1):c.716A>G (p.Glu239Gly)10522DEAF1Conflicting interpretations of pathogenicityrs1064795812RCV000482280|RCV000988467|RCV001171488; NMedGen:CN517202|MONDO:MONDO:0014357,MedGen:C4014414,OMIM:615828|MONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011686946686946TC11:g.686946T>CClinGen:CA16619391,OMIM:602635.0017CN169374 not specified;
NM_021008.4(DEAF1):c.701G>A (p.Trp234Ter)10522DEAF1Uncertain significancers1064795813RCV000484156|RCV001171487; NMedGen:CN517202|MONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011686961686961CT11:g.686961C>TClinGen:CA16619392,OMIM:602635.0016CN169374 not specified;
NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp)10522DEAF1Likely pathogenicrs587777623RCV000515525|RCV000622720; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:468620|MeSH:D030342,MedGen:C095012311686986686986GANC_000011.9:g.686986G>AClinGen:CA233038,UniProtKB:O75398#VAR_071372,OMIM:602635.0005C4310683 617171 Dyskinesia, seizures, and intellectual developmental disorder;
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln)10522DEAF1Pathogenicrs1415420832RCV001171489; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011686991686991CT11:g.686991C>TOMIM:602635.0018
NM_021008.4(DEAF1):c.667G>A (p.Gly223Ser)10522DEAF1Conflicting interpretations of pathogenicityrs1057518811RCV000415315|RCV000479610|RCV001197437; N9 conditions|MedGen:CN517202|MONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011686995686995CT11:g.686995C>TClinGen:CA16043461C1263846 143465 Attention deficit hyperactivity disorder;
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser)10522DEAF1Pathogenic/Likely pathogenicrs1057519565RCV000417021|RCV000493974|RCV001788214; NMONDO:MONDO:0014357,MedGen:C4014414,OMIM:615828|MedGen:CN517202|MONDO:MONDO:0014357,MedGen:C4014414,OMIM:615828; MONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011687941687941CT11:g.687941C>TClinGen:CA16044346,OMIM:602635.0007C4014414 615828 Mental retardation, autosomal dominant 24;
NM_021008.4(DEAF1):c.571A>T (p.Lys191Ter)10522DEAF1Pathogenicrs1860672061RCV001171479; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011688004688004TA11:g.688004T>AOMIM:602635.0019
NM_021008.4(DEAF1):c.518-34G>A10522DEAF1Benign-1RCV001544195|RCV001544196; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:468620|MONDO:MONDO:0014357,MedGen:C4014414,OMIM:61582811688091688091CT688091-
NM_021008.4(DEAF1):c.290-38C>T10522DEAF1Benign-1RCV001544197|RCV001544326; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:468620|MONDO:MONDO:0014357,MedGen:C4014414,OMIM:61582811691636691636GA691636-
NM_021008.4(DEAF1):c.104G>A (p.Gly35Asp)10522DEAF1Uncertain significance-1RCV001839228; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:468620; MONDO:MONDO:0014357,MedGen:C4014414,OMIM:61582811694944694944CT694944-
NM_021008.4(DEAF1):c.72_89del (p.19VAAAAA[1])10522DEAF1Uncertain significance-1RCV001837399; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:46862011694959694976CGCGGCCGCCGCCGCCACAC694958-
NM_021008.4(DEAF1):c.74T>G (p.Val25Gly)10522DEAF1Uncertain significance-1RCV001839309; NMONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:468620; MONDO:MONDO:0014357,MedGen:C4014414,OMIM:61582811694974694974AC694974-
NM_021008.4(DEAF1):c.56T>C (p.Val19Ala)10522DEAF1Uncertain significancers767318857RCV000502415|RCV001356171|RCV001857089; NMedGen:CN169374|MONDO:MONDO:0014952,MedGen:C4310683,OMIM:617171, Orphanet:468620|MedGen:CN51720211694992694992AGNC_000011.9:g.694992A>GClinGen:CA5786682CN169374 not specified;
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