MSeqDR Mitochondrial Disease Portal


 
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Diseases (C)
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Growth Disorders (D006130)
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Hypogonadism (D007006)
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Mental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
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Muscular Atrophy (D009133)
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Tremor (D014202)
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MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)

       Child Nodes:



 Sister Nodes: 
..expandFragile X Tremor Ataxia Syndrome (C564105)
..expandGeniospasm (C537682)
..expandMENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE (OMIM:300354)
..expandPrimary orthostatic tremor (C536418)
..expandTremor hereditary essential, 2 (C536546)
..expandTremor of Intention, Ataxia, and Lipofuscinosis (C566038)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7800
Name:MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
Definition:
Alternative IDs:DO:DOID:0060822
ParentIDs:MESH:C567069|MESH:D006130|MESH:D007006|MESH:D009133|MESH:D014202
TreeNumbers:C10.597.350.850/300354 |C10.597.606.360.455/C567069/300354 |C10.597.613.612/300354 |C16.320.322.500/C567069/300354 |C16.320.400.525/C567069/300354 |C19.391.482/300354 |C23.300.070.500/300354 |C23.550.393/300354 |C23.888.592.350.850/300354 |C23.888.592.608.612/300
Synonyms:CABEZAS SYNDROME |MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 |MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE |MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT |MRSS |MRXS15 |MRXSC
Slim Mappings:Endocrine system disease|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Signs and symptoms
Reference: MedGen: 300354
MeSH: 300354
OMIM: 300354;
MSeqDR LSDB:  
Genes: CUL4B;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0012743Abdominal obesityHP:0040284
3 HP:0003011Abnormality of the musculature
4 HP:0000377Abnormality of the pinna
5 HP:0001344Absent speech
6 HP:0000718Aggressive behaviorHP:0040284
7 HP:0001156BrachydactylyHP:0040283
8 HP:0006855Cerebellar vermis atrophyHP:0040283
9 HP:0000280Coarse facial features
10 HP:0002539Cortical dysplasiaHP:0040283
11 HP:0009879Cortical gyral simplificationHP:0040283
12 HP:0000028Cryptorchidism
13 HP:0008734Decreased testicular sizeHP:0040284
14 HP:0000823Delayed puberty
NAMDC:  Prolonged pubertal growth spurt
15 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
HP:0040284
16 HP:0005280Depressed nasal bridge
17 HP:0008944Distal lower limb amyotrophyHP:0040284
18 HP:0002066Gait ataxiaHP:0040284
19 HP:0001290Generalized hypotonia
20 HP:0000771GynecomastiaHP:0040284
21 HP:0000348High forehead
22 HP:0000752Hyperactivity
23 HP:0000135Hypogonadism
NAMDC:  Hypoparathyroidism
24 HP:0002079Hypoplasia of the corpus callosumHP:0040283
25 HP:0000047Hypospadias
26 HP:0001249Intellectual disability
27 HP:0001388Joint laxity
28 HP:0002808Kyphosis
29 HP:0000158Macroglossia
30 HP:0000303Mandibular prognathia
31 HP:0000054Micropenis
32 HP:0000720Mood swings
33 HP:0001270Motor delayHP:0040284
34 HP:0001761Pes cavus
35 HP:0001763Pes planusHP:0040284
36 HP:0002126PolymicrogyriaHP:0040283
37 HP:0004482Relative macrocephaly
38 HP:0001250Seizures
NAMDC:  Seizures
HP:0040284 Infantile onset
39 HP:0001773Short footHP:0040284
40 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
41 HP:0200055Small hand
42 HP:0001065Striae distensae
43 HP:0000179Thick lower lip vermilionHP:0040284
44 HP:0001337TremorHP:0040284
45 HP:0002119Ventriculomegaly
46 HP:0000154Wide mouth
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001079872.2(CUL4B):c.2677dup (p.Tyr893fs)8450CUL4BUncertain significance-1RCV001964126; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119660626119660627TTA119660626-
NM_001079872.2(CUL4B):c.2652T>G (p.Asp884Glu)8450CUL4BUncertain significancers768424127RCV001725875; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119660652119660652AC119660652-
NM_001079872.2(CUL4B):c.2650G>A (p.Asp884Asn)8450CUL4BUncertain significance-1RCV001849897; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119660654119660654CT119660654-
NM_001079872.2(CUL4B):c.2634G>A (p.Arg878=)8450CUL4BBenignrs143580749RCV000615115|RCV000640930; NMedGen:CN169374|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119660670119660670CTX:g.119660670C>TClinGen:CA10505393CN169374 not specified;
NM_001079872.2(CUL4B):c.2593-18A>C8450CUL4BLikely benign-1RCV002193229; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119660729119660729TG119660729-
NM_001079872.2(CUL4B):c.2523G>C (p.Lys841Asn)8450CUL4BUncertain significancers1556181426RCV000515477; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119664026119664026CGX:g.119664026C>GClinGen:CA414192914C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.2161-15T>G8450CUL4BBenignrs183114462RCV000421167|RCV002062506; NMedGen:CN169374|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119668456119668456ACX:g.119668456A>CClinGen:CA10505434CN169374 not specified;
NM_001079872.2(CUL4B):c.2161-15T>C8450CUL4BBenign-1RCV002129727; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119668456119668456AG119668456-
NM_001079872.2(CUL4B):c.2137_2140del (p.Cys712_Val713insTer)8450CUL4BPathogenic-1RCV001780596; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119669705119669708AACACA119669704-
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=)8450CUL4BBenignrs185389157RCV000893153|RCV001818680; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293|MedGen:CN169374X119670866119670866CTX:g.119670866C>T-
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=)8450CUL4BBenign/Likely benignrs148700620RCV000175044|RCV000600141|RCV000711343|RCV000718729; NMedGen:CN169374|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293|MedGen:CN517202|MedGen:C2711754X119672060119672060GAX:g.119672060G>AClinGen:CA201270CN169374 not specified;
NM_001079872.2(CUL4B):c.1852+1G>T8450CUL4BPathogenicrs797044862RCV000190824|RCV001795310; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293|X119672514119672514CANC_000023.10:g.119672514C>AClinGen:CA358351,OMIM:300304.0005C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=)8450CUL4BBenign-1RCV001636492|RCV002072965|RCV001821936; NMedGen:CN517202|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293|MedGen:CN169374X119672570119672570GA119672570-
NM_001079872.2(CUL4B):c.1741+4_1741+7del8450CUL4BLikely pathogenicrs1569389364RCV000770976; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119673116119673119ATACTANC_000023.10:g.119673119_119673122del-
NM_001079872.2(CUL4B):c.1738T>C (p.Tyr580His)8450CUL4BUncertain significancers1923849803RCV001056755|RCV001759806; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293|MedGen:CN517202X119673126119673126AGX:g.119673126A>G-
NM_001079872.2(CUL4B):c.1682_1683del (p.Thr561fs)8450CUL4BPathogenicrs1057519396RCV000417055; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119673181119673182CTGCNC_000023.10:g.119673181_119673182delTGClinGen:CA16044367C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.1660C>T (p.Arg554Cys)8450CUL4BPathogenicrs121434615RCV000012091|RCV001564415; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293|MedGen:CN517202X119673204119673204GAX:g.119673204G>AClinGen:CA214661,UniProtKB:Q13620#VAR_032274,OMIM:300304.0001C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.1651T>A (p.Ser551Thr)8450CUL4BUncertain significance-1RCV001785214; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119673213119673213AT119673213-
NM_001079872.2(CUL4B):c.1598T>G (p.Phe533Cys)8450CUL4BUncertain significancers1923919394RCV001333139; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119674263119674263AC119674263-
NM_001079872.2(CUL4B):c.1588T>C (p.Phe530Leu)8450CUL4BUncertain significancers1923920343RCV001330206; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119674273119674273AG119674273-
NM_001079872.2(CUL4B):c.1480G>A (p.Asp494Asn)8450CUL4BUncertain significance-1RCV001973470; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119674381119674381CT119674381-
NM_001079872.2(CUL4B):c.1444-4T>G8450CUL4BLikely benign-1RCV002090038; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119674421119674421AC119674421-
NM_001079872.2(CUL4B):c.1428G>A (p.Trp476Ter)8450CUL4BLikely pathogenicrs1924000101RCV001253208; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119675472119675472CTX:g.119675472C>T-
NM_001079872.2(CUL4B):c.1404_1405del (p.Val469fs)8450CUL4BPathogenicrs1556206910RCV000627044; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119675495119675496ACTAX:g.119675495_119675496delClinGen:CA658799848C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter)8450CUL4BLikely pathogenicrs905353542RCV000824885; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119675504119675504GAX:g.119675504G>A-
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs)8450CUL4BPathogenicrs1602577238RCV000990935; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119675514119675514TGTX:g.119675514_119675514del-
NM_001079872.2(CUL4B):c.1324+15G>A8450CUL4BBenignrs143921252RCV000430097|RCV002058894; NMedGen:CN169374|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119676806119676806CTX:g.119676806C>TClinGen:CA10505550CN169374 not specified;
NM_001079872.2(CUL4B):c.1324+9C>A8450CUL4BLikely benign-1RCV001398094; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119676812119676812GT119676812-
NM_001079872.2(CUL4B):c.1309G>A (p.Ala437Thr)8450CUL4BUncertain significancers757649304RCV000503200|RCV001857088; NMedGen:CN169374|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119676836119676836CTNC_000023.10:g.119676836C>TClinGen:CA10505554CN169374 not specified;
NM_001079872.2(CUL4B):c.1257-9del8450CUL4BBenign-1RCV001515383|RCV001712923; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293|MedGen:CN517202X119676897119676897GAG119676896-
NM_001079872.2(CUL4B):c.1257-19T>C8450CUL4BBenign-1RCV002113535; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119676907119676907AG119676907-
NM_001079872.2(CUL4B):c.1174-20G>A8450CUL4BBenign-1RCV001621898|RCV002072937; NMedGen:CN517202|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119677684119677684CT119677684-
NM_001079872.2(CUL4B):c.1108C>T (p.Arg370Ter)8450CUL4BPathogenicrs121434616RCV000012092|RCV000415116; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293|Human Phenotype Ontology:HP:0001999,Human Phenotype Ontology:HP:0002004,Human Phenotype Ontology:HP:0002260,Human Phenotype Ontology:HP:0004643,Human Phenotype OntX119678034119678034GAX:g.119678034G>AClinGen:CA214662,OMIM:300304.0002C0424503 Abnormal facial shape;
NM_001079872.2(CUL4B):c.1106A>G (p.Gln369Arg)8450CUL4BUncertain significancers1556213268RCV000546039; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119678036119678036TCX:g.119678036T>CClinGen:CA414198602C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.995T>C (p.Ile332Thr)8450CUL4BUncertain significancers1924204795RCV001089951; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119678424119678424AGX:g.119678424A>G-
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs)8450CUL4BPathogenicrs1085307760RCV000489216|RCV000590902; NMedGen:CN517202|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119678462119678466TTATAATX:g.119678462_119678466delClinGen:CA645294134CN517202 not provided;
NM_001079872.2(CUL4B):c.951TAT[1] (p.Ile319del)8450CUL4BUncertain significancers1556214312RCV000640927|RCV001771869; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293|MedGen:CN517202X119678463119678465TATATX:g.119678463_119678465delClinGen:CA658799849C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)8450CUL4BLikely pathogenic-1RCV001270368; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119678496119678498TCCGGTNC_000023.10:g.119678496_119678498delinsGGT-
NM_001079872.2(CUL4B):c.889G>A (p.Val297Ile)8450CUL4BUncertain significancers367660624RCV000800231; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119679330119679330CTX:g.119679330C>T-
NM_001079872.2(CUL4B):c.847-2A>G8450CUL4BPathogenicrs786200913RCV000012093; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119679374119679374TCNC_000023.10:g.119679374T>CClinGen:CA214664,OMIM:300304.0003C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.847-10del8450CUL4BBenignrs762094686RCV000480729|RCV000640929|RCV001081350; NMedGen:CN169374|MedGen:CN517202|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119679382119679382GAGX:g.119679382_119679382delClinGen:CA10505618CN169374 not specified;
NM_001079872.2(CUL4B):c.784T>A (p.Leu262Met)8450CUL4BPathogenic-1RCV001528174; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119680464119680464AT119680464-
NM_001079872.2(CUL4B):c.777-3C>T8450CUL4BUncertain significance-1RCV001761586; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119680474119680474GA119680474-
NM_001079872.2(CUL4B):c.777-12C>T8450CUL4BBenignrs192860595RCV000609172|RCV002062193; NMedGen:CN169374|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119680483119680483GAX:g.119680483G>AClinGen:CA10505635CN169374 not specified;
NM_001079872.2(CUL4B):c.776+7dup8450CUL4BBenign-1RCV001713357|RCV002073347; NMedGen:CN517202|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119680979119680980TTA119680979-
NM_001079872.2(CUL4B):c.360CTC[5] (p.Ser128del)8450CUL4BLikely benignrs754330779RCV000640928|RCV001467101; NMedGen:CN517202|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119694117119694119TGAGTNC_000023.10:g.119694119GGA[5]ClinGen:CA10505700CN169374 not specified;
NM_001079872.2(CUL4B):c.360CTC[3] (p.Ser126_Ser128del)8450CUL4BConflicting interpretations of pathogenicityrs754330779RCV000599361|RCV001045420; NMedGen:CN517202|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119694117119694125TGAGGAGGAGTX:g.119694117_119694125delClinGen:CA10505704CN517202 not provided;
NM_001079872.2(CUL4B):c.319C>G (p.Leu107Val)8450CUL4BConflicting interpretations of pathogenicityrs760294805RCV000640926|RCV001547950; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293|MedGen:CN517202X119694175119694175GCX:g.119694175G>CClinGen:CA10505713C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.294G>T (p.Gln98His)8450CUL4BUncertain significancers755306871RCV000532515|RCV001252215; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype OntX119694200119694200CAX:g.119694200C>AClinGen:CA10505718C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.270T>C (p.Ala90=)8450CUL4BLikely benign-1RCV002152520; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119694224119694224AG119694224-
NM_001079872.2(CUL4B):c.228A>G (p.Ala76=)8450CUL4BLikely benign-1RCV001486326; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119694266119694266TC119694266-
NM_001079872.2(CUL4B):c.164G>A (p.Arg55Lys)8450CUL4BUncertain significance-1RCV001976148; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119694330119694330CT119694330-
NM_001079872.2(CUL4B):c.139A>G (p.Ser47Gly)8450CUL4BLikely benignrs145134351RCV000693451|RCV001394022; NMedGen:CN517202|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119694355119694355TCNC_000023.10:g.119694355T>C-C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu)8450CUL4BPathogenicrs869320682RCV000190825; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119694399119694399GAX:g.119694399G>AClinGen:CA358848,OMIM:300304.0006C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.63A>T (p.Arg21Ser)8450CUL4BUncertain significancers757541076RCV000558589; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119694431119694431TANC_000023.10:g.119694431T>AClinGen:CA10505743C1845861 300354 Syndromic X-linked mental retardation, Cabezas type;
NM_001079872.2(CUL4B):c.53A>G (p.Gln18Arg)8450CUL4BUncertain significancers1199433297RCV001232844; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119694441119694441TCX:g.119694441T>C-
NM_001079872.2(CUL4B):c.43G>A (p.Ala15Thr)8450CUL4BUncertain significancers1925231122RCV001330207; NGene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119694451119694451CT119694451-
NM_003588.4(CUL4B):c.65G>A (p.Gly22Asp)8450CUL4BBenign/Likely benignrs145808703RCV000608920|RCV000887497|RCV002060618; NMedGen:CN169374|MedGen:CN517202|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119708408119708408CTX:g.119708408C>TClinGen:CA10505798CN169374 not specified;
NM_003588.4(CUL4B):c.26G>A (p.Gly9Glu)8450CUL4BBenign/Likely benignrs149016283RCV000417477|RCV001572672|RCV002059696; NMedGen:CN169374|MedGen:CN517202|Gene:114890,MONDO:MONDO:0010306,MedGen:C1845861,OMIM:300354, Orphanet:85289, Orphanet:85293X119708447119708447CTX:g.119708447C>TClinGen:CA10505805CN169374 not specified;
MSeqDR Portal