MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
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Mental Retardation, X-Linked (D038901)
..Starting node
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MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)

       Child Nodes:



 Sister Nodes: 
..expandAbidi X-linked mental retardation syndrome (C535556)
..expandAdrenoleukodystrophy (D000326) Child4
..expandAldred syndrome (C537046)
..expandAllan-Herndon-Dudley syndrome (C537047)
..expandArena syndrome (C537428)
..expandArmfield X-Linked Mental Retardation Syndrome (C564551)
..expandAtkin syndrome (C538195)
..expandATR-X syndrome (C538258)
..expandBorjeson-Forssman-Lehmann syndrome (C536575)
..expandBrooks-Wisniewski-Brown Syndrome (C563154)
..expandChromosome Xp11.3 Deletion Syndrome (C564481)
..expandCK SYNDROME (OMIM:300831)
..expandClark-Baraitser syndrome (C536208)
..expandClassical Lissencephalies and Subcortical Band Heterotopias (D054221) Child5
..expandCoffin-Lowry Syndrome (D038921)
..expandCowchock syndrome (C536450)
..expandCreatine deficiency, X-linked (C535598)
..expandEncephalopathy, Neonatal Severe, Due To Mecp2 Mutations (C566878)
..expandFaciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
..expandFragile X Syndrome (D005600) Child3
..expandGlycogen Storage Disease Type IIb (D052120)
..expandLesch-Nyhan Syndrome (D007926) Child1
..expandLubs X-linked mental retardation syndrome (C537723)
..expandLujan Fryns syndrome (C537724)
..expandMEHMO syndrome (C537451)
..expandMenkes Kinky Hair Syndrome (D007706) Child1
..expandMental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..expandMental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
..expandMental retardation X-linked syndromic 7 (C537449)
..expandMental retardation X-linked, South African type (C537450)
..expandMental Retardation, X-Linked 1 (C567906)
..expandMENTAL RETARDATION, X-LINKED 100 (OMIM:300923)
..expandMENTAL RETARDATION, X-LINKED 101 (OMIM:300928)
..expandMENTAL RETARDATION, X-LINKED 102 (OMIM:300958)
..expandMENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
..expandMENTAL RETARDATION, X-LINKED 104 (OMIM:300983)
..expandMENTAL RETARDATION, X-LINKED 105 (OMIM:300984)
..expandMENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
..expandMental retardation, X-linked 14 (C537454)
..expandMental Retardation, X-Linked 16 (C563139)
..expandMental Retardation, X-Linked 17 (C563140)
..expandMental Retardation, X-Linked 19 (C563141)
..expandMENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
..expandMental Retardation, X-Linked 2 (C563135)
..expandMental Retardation, X-Linked 20 (C563142)
..expandMENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
..expandMental Retardation, X-Linked 23 (C563144)
..expandMental Retardation, X-Linked 3 (C563136)
..expandMental Retardation, X-Linked 30 (C563146)
..expandMental Retardation, X-Linked 31 (C563147)
..expandMental Retardation, X-Linked 34 (C563148)
..expandMENTAL RETARDATION, X-LINKED 41 (OMIM:300849)
..expandMental Retardation, X-Linked 42 (C564524)
..expandMental Retardation, X-Linked 45 (C564503)
..expandMental Retardation, X-Linked 46 (C564513)
..expandMental Retardation, X-Linked 47 (C563151)
..expandMental Retardation, X-Linked 50 (C564713)
..expandMental Retardation, X-Linked 52 (C564502)
..expandMental Retardation, X-Linked 53 (C564533)
..expandMental Retardation, X-Linked 58 (C564566)
..expandMental Retardation, X-Linked 59 (C564470)
..expandMental Retardation, X-Linked 63 (C564522)
..expandMental Retardation, X-Linked 72 (C564547)
..expandMental Retardation, X-Linked 73 (C564528)
..expandMental Retardation, X-Linked 77 (C564511)
..expandMental Retardation, X-Linked 78 (C564489)
..expandMental Retardation, X-Linked 79 (C566876)
..expandMental Retardation, X-Linked 81 (C564515)
..expandMental Retardation, X-Linked 82 (C564496)
..expandMental Retardation, X-Linked 84 (C564501)
..expandMental Retardation, X-Linked 89 (C564036)
..expandMental Retardation, X-Linked 9 (C563137)
..expandMENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
..expandMental Retardation, X-Linked 91 (C564482)
..expandMental Retardation, X-Linked 92 (C564483)
..expandMental Retardation, X-Linked 93 (C567066)
..expandMental Retardation, X-Linked 94 (C567479)
..expandMental Retardation, X-Linked 95 (C567470)
..expandMENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
..expandMENTAL RETARDATION, X-LINKED 98 (OMIM:300912)
..expandMENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
..expandMENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
..expandMental Retardation, X-Linked Nonsyndromic (C564490)
..expandMental Retardation, X-Linked, Syndromic 10 (C564560)  LSDB  L: 00526;
..expandMental Retardation, X-Linked, Syndromic 13 (C566875)
..expandMental Retardation, X-Linked, Syndromic 14 (C567063)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC 32 (OMIM:300886)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC 33 (OMIM:300966)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC 34 (OMIM:300967)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMental Retardation, X-Linked, Syndromic 9 (C567474)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
..expandMental Retardation, X-Linked, Syndromic, Jarid1c-Related (C564494)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE (OMIM:300860)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
..expandMental Retardation, X-Linked, Syndromic, Ube2a-Related (C564069)
..expandMental Retardation, X-Linked, Syp-Related (C567584)
..expandMental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
..expandMental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (C537456)
..expandMental Retardation, X-Linked, with Epilepsy (C564516)
..expandMental Retardation, X-Linked, with Isolated Growth Hormone Deficiency (C564712)
..expandMental Retardation, X-Linked, With Or Without Seizures, Arx-Related (C563150)
..expandMental Retardation, X-Linked, with Short Stature (C564527)
..expandMental Retardation, X-Linked, With Spasticity (C566877)
..expandMental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..expandMicrophthalmia, Syndromic 4 (C564457)
..expandMiles-Carpenter x-linked mental retardation syndrome (C537472)
..expandMucopolysaccharidosis II (D016532)
..expandOpitz-Kaveggia syndrome (C537923)
..expandOrofaciodigital syndrome, Shashi type (C537135)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPlagiocephaly and X-linked mental retardation (C537512)
..expandPpm-X Syndrome (C580387)
..expandPrieto X-linked mental retardation syndrome (C535274)
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandRAYNAUD-CLAES SYNDROME (OMIM:300114)
..expandRenpenning syndrome 1 (C537761)
..expandRett Syndrome (D015518) Child5
..expandRoifman syndrome (C535866)
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSiderius X-linked mental retardation syndrome (C537333)
..expandSnyder Robinson syndrome (C536678)
..expandStocco dos Santos syndrome (C537495)
..expandTONNE-KALSCHEUER SYNDROME (OMIM:300978)
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWilson-Turner X-linked mental retardation syndrome (C536708)
..expandWittwer syndrome (C536737)
..expandX-linked mental retardation Gustavson type (C536759)
..expandX-linked mental retardation type Wittwer (C536760)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7799
Name:MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE
Definition:
Alternative IDs:
ParentIDs:MESH:D038901
TreeNumbers:C10.597.606.360.455/300986 |C16.320.322.500/300986 |C16.320.400.525/300986
Synonyms:MRXSB
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: 300986
MeSH: 300986
OMIM: 300986;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0001423X-linked dominant inheritance
2 HP:0000718Aggressive behavior
3 HP:0000739Anxiety
NAMDC:  Anxiety
4 HP:0001251Ataxia
5 HP:0000729Autistic behavior
6 HP:0002019Constipation
7 HP:0002376Developmental regression
8 HP:0000286Epicanthus
9 HP:0001508Failure to thrive
10 HP:0011968Feeding difficulties
11 HP:0001288Gait disturbance
12 HP:0002020Gastroesophageal reflux
13 HP:0001290Generalized hypotonia
14 HP:0001263Global developmental delay
NAMDC:  Mental retardation
15 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
16 HP:0000218High palate
17 HP:0003307Hyperlordosis
18 HP:0000316Hypertelorism
19 HP:0001276Hypertonia
20 HP:0000601Hypotelorism
21 HP:0001249Intellectual disability
22 HP:0001388Joint laxity
23 HP:0000347Micrognathia
24 HP:0000722Obsessive-compulsive behavior
25 HP:0001763Pes planus
26 HP:0005484Postnatal microcephalyHP:0040283
27 HP:0002650Scoliosis
28 HP:0001250Seizures
NAMDC:  Seizures
29 HP:0012745Short palpebral fissure
30 HP:0000322Short philtrum
31 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
32 HP:0012471Thick vermilion border
33 HP:0000430Underdeveloped nasal alae
34 HP:0000154Wide mouth
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001257293.2(HNRNPH1):c.340C>T (p.Arg114Trp)3187HNRNPH1Likely pathogenic-1RCV001175254; NMONDO:MONDO:0010512,MedGen:C4310814,OMIM:3009865179047950179047950GA5:g.179047950G>A-
NM_019597.5(HNRNPH2):c.85C>T (p.Arg29Cys)3188HNRNPH2Likely pathogenicrs1555988314RCV000995563; NMONDO:MONDO:0010512,MedGen:C4310814,OMIM:300986X100667061100667061CTX:g.100667061C>T-
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)3188HNRNPH2Pathogenicrs886039763RCV000256179|RCV000509011|RCV000623824|RCV001195298; NMONDO:MONDO:0010512,MedGen:C4310814,OMIM:300986|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MeSH:D065886,MedGen:C1535926X100667592100667592CTX:g.100667592C>TClinGen:CA10576091,UniProtKB:P55795#VAR_077234,OMIM:300610.0001
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)3188HNRNPH2Pathogenicrs886039764RCV000256185|RCV000509012; NMONDO:MONDO:0010512,MedGen:C4310814,OMIM:300986|MedGen:CN517202X100667593100667593GAX:g.100667593G>AClinGen:CA10576092,UniProtKB:P55795#VAR_077233,OMIM:300610.0002
NM_019597.5(HNRNPH2):c.626C>T (p.Pro209Leu)3188HNRNPH2Pathogenicrs1555988417RCV000509014|RCV000509057; NMedGen:CN517202|MONDO:MONDO:0010512,MedGen:C4310814,OMIM:300986X100667602100667602CTX:g.100667602C>TClinGen:CA413942603,OMIM:300610.0003C4310814 300986 Mental retardation, X-linked, syndromic, Bain type;
NM_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys)3188HNRNPH2Likely pathogenicrs1555988422RCV000623859|RCV001265395; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010512,MedGen:C4310814,OMIM:300986X100667605100667605AGX:g.100667605A>GClinGen:CA413942610C0950123 Inborn genetic diseases;
NM_019597.5(HNRNPH2):c.635G>C (p.Arg212Thr)3188HNRNPH2Likely pathogenic-1RCV001265254; NMONDO:MONDO:0010512,MedGen:C4310814,OMIM:300986X100667611100667611GCX:g.100667611G>C-
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