MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:7564
Name:Meier-Gorlin syndrome
Definition:
Alternative IDs:DO:DOID:0060306|OMIM:224690|OMIM:613800|OMIM:613803|OMIM:613804|OMIM:613805|OMIM:616835|OMIM:617063
ParentIDs:MESH:D006130|MESH:D008844|MESH:D065817
TreeNumbers:C05.500.460.457/C538012 |C05.660.207.540.460.457/C538012 |C07.320.440.457/C538012 |C07.650.500.460.457/C538012 |C09.218.235/C538012 |C16.131.287/C538012 |C16.131.621.207.540.460.457/C538012 |C16.131.850.500.460.457/C538012 |C23.550.393/C538012
Synonyms:Ear, patella, short stature syndrome |EPS |MEIER-GORLIN SYNDROME |MEIER-GORLIN SYNDROME 1 |MEIER-GORLIN SYNDROME 2 |MEIER-GORLIN SYNDROME 3 |MEIER-GORLIN SYNDROME 4 |MEIER-GORLIN SYNDROME 5 |MEIER-GORLIN SYNDROME 6 |MEIER-GORLIN SYNDROME 7 |MGORS1 |MGORS2 |MGORS3 |MG
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Mouth disease|Musculoskeletal disease|Pathology (process)
Reference: MedGen: C538012
MeSH: C538012
OMIM: 224690;
MSeqDR LSDB:  
Genes: CDC6; CDT1; ORC1; ORC4; ORC6;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002644Abnormality of pelvic girdle bone morphology
3 HP:0006591Absent glenoid fossa
4 HP:0006628Absent sternal ossification
5 HP:0006498Aplasia/Hypoplasia of the patella
6 HP:0000413Atresia of the external auditory canal
7 HP:0003561Birth length less than 3rd percentile
8 HP:0000581Blepharophimosis
9 HP:0003187Breast hypoplasia
10 HP:0001623Breech presentation
11 HP:0012385Camptodactyly
12 HP:0000175Cleft palate
13 HP:0004209Clinodactyly of the 5th finger
14 HP:0008665Clitoral hypertrophy
15 HP:0000028Cryptorchidism
16 HP:0010554Cutaneous finger syndactyly
17 HP:0002750Delayed skeletal maturation
18 HP:0003042Elbow dislocation
19 HP:0001508Failure to thrive
20 HP:0008872Feeding difficulties in infancy
21 HP:0000911Flat glenoid fossa
22 HP:0002007Frontal bossing
23 HP:0002020Gastroesophageal reflux
24 HP:0002857Genu valgum
25 HP:0002970Genu varum
26 HP:0000365Hearing impairment
27 HP:0002937Hemivertebrae
28 HP:0001425Heterogeneous
29 HP:0000218High palate
30 HP:0001795Hyperconvex nail
31 HP:0000327Hypoplasia of the maxilla
32 HP:0000059Hypoplastic labia majora
33 HP:0000064Hypoplastic labia minora
34 HP:0000376Incomplete partition of the cochlea type II
35 HP:0001249Intellectual disability
36 HP:0001511Intrauterine growth retardation
37 HP:0009473Joint contracture of the hand
38 HP:0001388Joint laxity
39 HP:0000895Lateral clavicle hook
40 HP:0000527Long eyelashes
41 HP:0000369Low-set ears
42 HP:0000252Microcephaly
43 HP:0000691Microdontia
44 HP:0000347Micrognathia
45 HP:0000054Micropenis
46 HP:0008551Microtia
47 HP:0000160Narrow mouth
48 HP:0000768Pectus carinatum
49 HP:0002098Respiratory distress
50 HP:0000049Shawl scrotum
51 HP:0004279Short palm
52 HP:0012745Short palpebral fissure
53 HP:0000773Short ribs
54 HP:0003100Slender long bone
55 HP:0000237Small anterior fontanelle
56 HP:0001518Small for gestational age
57 HP:0200055Small hand
58 HP:0000486Strabismus
59 HP:0001762Talipes equinovarus
60 HP:0000179Thick lower lip vermilion
61 HP:0000883Thin ribs
62 HP:0000963Thin skin
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004153.4(ORC1):c.*231C>T4998ORC1Benignrs3087471RCV000291923; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415283862252838622GA1:g.52838622G>AClinGen:CA10611213
NM_004153.4(ORC1):c.*226G>C4998ORC1Uncertain significancers886046395RCV000339905; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415283862752838627CG1:g.52838627C>GClinGen:CA10611357
NM_004153.4(ORC1):c.*94C>T4998ORC1Uncertain significancers574908976RCV000402493; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415283875952838759GA1:g.52838759G>AClinGen:CA10610418
NM_004153.4(ORC1):c.2580C>T (p.Asp860=)4998ORC1Conflicting interpretations of pathogenicityrs61756139RCV000872701|RCV001096520; NMedGen:CN517202|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415283885952838859GA1:g.52838859G>A-
NM_004153.4(ORC1):c.2570C>T (p.Ala857Val)4998ORC1Uncertain significance-1RCV001096521; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415283886952838869GA1:g.52838869G>A-
NM_004153.4(ORC1):c.2536C>T (p.Arg846Trp)4998ORC1Uncertain significance-1RCV001096522; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415283890352838903GA1:g.52838903G>A-
NM_004153.4(ORC1):c.2447T>C (p.Met816Thr)4998ORC1Benignrs34521609RCV000117877|RCV000304858; NMedGen:CN169374|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415283899252838992AG1:g.52838992A>GClinGen:CA154200,UniProtKB:Q13415#VAR_050426C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.2435C>T (p.Pro812Leu)4998ORC1Uncertain significance-1RCV001096523; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415283900452839004GA1:g.52839004G>A-
NM_004153.4(ORC1):c.2427G>A (p.Glu809=)4998ORC1Benignrs77077945RCV000117876|RCV000353104; NMedGen:CN169374|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415283901252839012CT1:g.52839012C>TClinGen:CA154198C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.2418C>T (p.Cys806=)4998ORC1Uncertain significance-1RCV001098264; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415283902152839021GA1:g.52839021G>A-
NM_004153.4(ORC1):c.2404C>T (p.His802Tyr)4998ORC1Uncertain significancers886046396RCV000397459; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415283903552839035GA1:g.52839035G>AClinGen:CA10610083
NM_004153.4(ORC1):c.2382G>A (p.Thr794=)4998ORC1Uncertain significancers146844078RCV000299439; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415284049152840491CT1:g.52840491C>TClinGen:CA853043
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile)4998ORC1Benign/Likely benignrs61753389RCV000501625|RCV000509535|RCV000870938; NMedGen:CN169374|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554|MedGen:CN51720215284055952840559CT1:g.52840559C>TClinGen:CA853057
NM_004153.4(ORC1):c.2303+10T>C4998ORC1Uncertain significance-1RCV001098265; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415284109252841092AG1:g.52841092A>G-
NM_004153.4(ORC1):c.2226C>A (p.Ser742=)4998ORC1Benign/Likely benignrs34644009RCV000503389|RCV000865446|RCV001098266; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415284117952841179GT1:g.52841179G>TClinGen:CA853092
NM_004153.4(ORC1):c.2221_2224dup (p.Ser742Ter)4998ORC1Uncertain significancers1557567563RCV000778985; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415284118052841181GGAGTC1:g.52841180_52841181insAGTC-
NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln)4998ORC1Pathogenicrs387906828RCV000023157; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415284124652841246CT1:g.52841246C>TClinGen:CA129047,UniProtKB:Q13415#VAR_065485,OMIM:601902.0004CN030358 224690 Meier-Gorlin syndrome 1;
NM_004153.4(ORC1):c.1999_2000delinsA (p.Val667fs)4998ORC1Pathogenicrs1557573504RCV000023158; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415284910552849106ACT1:g.52849106_52849106delOMIM:601902.0005
NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp)4998ORC1Pathogenicrs201253919RCV000023160; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415284910952849109GA1:g.52849109G>AClinGen:CA129049,UniProtKB:Q13415#VAR_065484,OMIM:601902.0007CN030358 224690 Meier-Gorlin syndrome 1;
NM_004153.4(ORC1):c.1964C>T (p.Thr655Ile)4998ORC1Uncertain significancers1569920188RCV000791113; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415284914152849141GA1:g.52849141G>A-
NM_004153.4(ORC1):c.1819A>G (p.Thr607Ala)4998ORC1Conflicting interpretations of pathogenicityrs139027440RCV000273625|RCV000871104; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554|MedGen:CN51720215284954652849546TC1:g.52849546T>CClinGen:CA853202
NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg)4998ORC1Benignrs547441862RCV000896822|RCV001098267; NMedGen:CN517202|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285023252850232TC1:g.52850232T>C-
NM_004153.4(ORC1):c.1707T>C (p.Asn569=)4998ORC1Conflicting interpretations of pathogenicityrs376619175RCV000872383|RCV001100035; NMedGen:CN517202|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285027052850270AG1:g.52850270A>G-
NM_004153.4(ORC1):c.1671C>T (p.Ala557=)4998ORC1Conflicting interpretations of pathogenicityrs61756137RCV000330981|RCV000905283; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554|MedGen:CN51720215285030652850306GA1:g.52850306G>AClinGen:CA853246
NM_004153.4(ORC1):c.1645C>T (p.Arg549Cys)4998ORC1Uncertain significance-1RCV001100036; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285033252850332GA1:g.52850332G>A-
NM_004153.4(ORC1):c.1584-4C>G4998ORC1Benignrs114617697RCV000369286|RCV000871696; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554|MedGen:CN51720215285039752850397GC1:g.52850397G>CClinGen:CA853265
NM_004153.4(ORC1):c.1482-2A>G4998ORC1Pathogenicrs1378348220RCV000023159; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285093652850936TC1:g.52850936T>COMIM:601902.0006
NM_004153.4(ORC1):c.1466A>T (p.Glu489Val)4998ORC1Uncertain significance-1RCV001100037; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285153952851539TA1:g.52851539T>A-
NM_004153.4(ORC1):c.1430G>A (p.Arg477Gln)4998ORC1Uncertain significancers886046397RCV000277078; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285157552851575CT1:g.52851575C>TClinGen:CA10610425
NM_004153.4(ORC1):c.1406G>A (p.Cys469Tyr)4998ORC1Benignrs3087483RCV000117874|RCV000325263|RCV000864304; NMedGen:CN169374|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554|MedGen:CN51720215285159952851599CT1:g.52851599C>TClinGen:CA154196,UniProtKB:Q13415#VAR_014514C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.1405T>C (p.Cys469Arg)4998ORC1Conflicting interpretations of pathogenicityrs144848215RCV000907437|RCV001100038; NMedGen:CN517202|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285160052851600AG1:g.52851600A>G-
NM_004153.4(ORC1):c.1397C>T (p.Thr466Met)4998ORC1Benignrs3087481RCV000117873|RCV000382251; NMedGen:CN169374|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285160852851608GA1:g.52851608G>AClinGen:CA154194,UniProtKB:Q13415#VAR_014513C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.1383T>C (p.Ser461=)4998ORC1Uncertain significance-1RCV001102025; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285411452854114AG1:g.52854114A>G-
NM_004153.4(ORC1):c.1318T>C (p.Ser440Pro)4998ORC1Uncertain significancers61756136RCV000193217|RCV000994001|RCV001102026; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285417952854179AG1:g.52854179A>GClinGen:CA206551CN169374 not specified;
NM_004153.4(ORC1):c.1284A>C (p.Thr428=)4998ORC1Uncertain significancers776642973RCV000290191; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285421352854213TG1:g.52854213T>GClinGen:CA853380
NM_004153.4(ORC1):c.1196G>A (p.Gly399Asp)4998ORC1Uncertain significance-1RCV001102027; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285430152854301CT1:g.52854301C>T-
NM_004153.4(ORC1):c.1186C>T (p.Arg396Trp)4998ORC1Benign/Likely benignrs114426997RCV000194995|RCV000873965|RCV001102028; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285489052854890GA1:g.52854890G>AClinGen:CA209539CN169374 not specified;
NM_004153.4(ORC1):c.1139G>T (p.Arg380Leu)4998ORC1Uncertain significancers576163345RCV000328770; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285493752854937CA1:g.52854937C>AClinGen:CA853420
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val)4998ORC1Benignrs3087476RCV000117871|RCV001102029; NMedGen:CN169374|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285496152854961GA1:g.52854961G>AClinGen:CA154190,UniProtKB:Q13415#VAR_014510CN169374 not specified;
NM_004153.4(ORC1):c.1025G>T (p.Gly342Val)4998ORC1Uncertain significance-1RCV001096624; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285917252859172CA1:g.52859172C>A-
NM_004153.4(ORC1):c.911C>T (p.Thr304Ile)4998ORC1Uncertain significance-1RCV001096625; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285928652859286GA1:g.52859286G>A-
NM_004153.4(ORC1):c.808G>A (p.Glu270Lys)4998ORC1Uncertain significance-1RCV001096626; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415285938952859389CT1:g.52859389C>T-
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu)4998ORC1Benign/Likely benignrs61753390RCV000117881|RCV000376527|RCV000870516; NMedGen:CN169374|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554|MedGen:CN51720215285939152859391GA1:g.52859391G>AClinGen:CA154204C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile)4998ORC1Uncertain significancers202095223RCV000500202|RCV000660447; NMedGen:CN169374|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415286183152861831GA1:g.52861831G>AClinGen:CA853553
NM_004153.4(ORC1):c.568G>A (p.Val190Met)4998ORC1Benignrs3087477RCV000117880|RCV000284372|RCV000870508; NMedGen:CN169374|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554|MedGen:CN51720215286187152861871CT1:g.52861871C>TClinGen:CA154202,UniProtKB:Q13415#VAR_014509C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.556T>C (p.Cys186Arg)4998ORC1Uncertain significance-1RCV001096627; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415286188352861883AG1:g.52861883A>G-
NM_004153.4(ORC1):c.540A>C (p.Gln180His)4998ORC1Benignrs3087482RCV000515091|RCV001096628; NMedGen:CN517202|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415286189952861899TG1:g.52861899T>GClinGen:CA853567CN517202 not provided;
NM_004153.4(ORC1):c.535C>A (p.Pro179Thr)4998ORC1Uncertain significancers753124340RCV000341764; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415286190452861904GT1:g.52861904G>TClinGen:CA853569
NM_004153.4(ORC1):c.435G>A (p.Pro145=)4998ORC1Uncertain significancers886046398RCV000380079; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415286200452862004CT1:g.52862004C>TClinGen:CA10610086
NM_004153.4(ORC1):c.403-7A>C4998ORC1Conflicting interpretations of pathogenicityrs199834691RCV000193149|RCV000286826|RCV000864586; NMedGen:CN169374|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554|MedGen:CN51720215286204352862043TG1:g.52862043T>GClinGen:CA206442C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.402+12C>T4998ORC1Likely benign-1RCV001098348; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415286334552863345GA1:g.52863345G>A-
NM_004153.4(ORC1):c.392G>T (p.Gly131Val)4998ORC1Uncertain significancers886046399RCV000341759; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415286336752863367CA1:g.52863367C>AClinGen:CA10610087
NM_004153.4(ORC1):c.387C>T (p.Ile129=)4998ORC1Uncertain significancers886046400RCV000406590; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415286337252863372GA1:g.52863372G>AClinGen:CA10610428
NM_004153.4(ORC1):c.380A>G (p.Glu127Gly)4998ORC1Pathogenicrs387906826RCV000023154; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415286337952863379TC1:g.52863379T>CClinGen:CA129041,UniProtKB:Q13415#VAR_065483,OMIM:601902.0001CN030358 224690 Meier-Gorlin syndrome 1;
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)4998ORC1Pathogenic/Likely pathogenicrs143141689RCV000023156|RCV000302017; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554|MONDO:MONDO:0016817,MedGen:C1868684,OMIM:PS224690, Orphanet:255415286344552863445CT1:g.52863445C>TClinGen:CA129045,UniProtKB:Q13415#VAR_065482,OMIM:601902.0003C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.289G>T (p.Ala97Ser)4998ORC1Uncertain significance-1RCV001098349; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415286347052863470CA1:g.52863470C>A-
NM_004153.4(ORC1):c.266T>C (p.Phe89Ser)4998ORC1Pathogenicrs387906827RCV000023155; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415286349352863493AG1:g.52863493A>GClinGen:CA129043,UniProtKB:Q13415#VAR_065481,OMIM:601902.0002CN030358 224690 Meier-Gorlin syndrome 1;
NM_004153.4(ORC1):c.189G>T (p.Pro63=)4998ORC1Likely benign-1RCV001098350; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415286706852867068CA1:g.52867068C>A-
NM_004153.4(ORC1):c.151C>G (p.Gln51Glu)4998ORC1Uncertain significance-1RCV001100137; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415286710652867106GC1:g.52867106G>C-
NM_004153.4(ORC1):c.57G>C (p.Arg19Ser)4998ORC1Benign/Likely benignrs3087473RCV000246237|RCV000347437|RCV000513920; NMedGen:CN169374|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554|MedGen:CN51720215286783952867839CG1:g.52867839C>GClinGen:CA853695,UniProtKB:Q13415#VAR_014507
NM_004153.4(ORC1):c.-5-12A>T4998ORC1Uncertain significance-1RCV001100138; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415286791252867912TA1:g.52867912T>A-
NM_004153.4(ORC1):c.-178C>T4998ORC1Uncertain significance-1RCV001100139; NMONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:255415287009052870090GA1:g.52870090G>A-
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