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Acidosis, Lactic (D000140)
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Renal Aminoacidurias (D000608)
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Finnish lethal neonatal metabolic syndrome (C537934)

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..expandCystinuria (D003555) Child3  LSDB C:1
..expandDicarboxylicaminoaciduria (C536171)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandHartnup Disease (D006250)
..expandHistidinuria renal tubular defect (C538321)
..expandRowley-Rosenberg syndrome (C535874)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4312
Name:Finnish lethal neonatal metabolic syndrome
Definition:
Alternative IDs:OMIM:603358
ParentIDs:MESH:D000140|MESH:D000608|MESH:D002779|MESH:D005317|MESH:D006486|MESH:D008661|MESH:D028361
TreeNumbers:C06.130.120.135/C537934 |C12.777.419.815.885/C537934 |C13.351.968.419.815.885/C537934 |C13.703.277.370/C537934 |C16.300.390/C537934 |C16.320.565.861.885/C537934 |C16.320.565/C537934 |C18.452.076.176.180/C537934 |C18.452.565.500.500/C537934 |C18.452.648.861.885/C5
Synonyms:Fellman syndrome |Finnish, lactic acidosis with hepatic hemosiderosis |FINNISH LETHAL NEONATAL METABOLIC SYNDROME |FLNMS |GRACILE syndrome |GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH |Lactic Acidosis, Finni
Slim Mappings:Digestive system disease|Fetal disease|Genetic disease (inborn)|Metabolic disease|Pathology (process)|Pregnancy complication|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C537934
MeSH: C537934
OMIM: 603358;
MSeqDR LSDB: 00104;  
Genes: BCS1L;
Phenotypes
1 HP:0010719Abnormality of hair texturetypical
2 HP:0011031Abnormality of iron homeostasishallmark
3 HP:0000091Abnormality of the renal tubulehallmark
4 HP:0003355Aminoaciduria20/20
5 HP:0003355Aminoaciduriahallmark
6 HP:0001396Cholestasis19/20
7 HP:0004925Chronic lactic acidosis
8 HP:0001394Cirrhosis
NAMDC:  Cirrhosis
hallmark
9 HP:0000365Hearing impairmenthallmark
10 HP:0001397Hepatic steatosis
NAMDC:  Hepatopathy with steatosis or oncocytic changes by liver biopsy
hallmark
11 HP:0003281Increased serum ferritin
12 HP:0003452Increased serum iron
13 HP:0003542Increased serum pyruvate
14 HP:0001511Intrauterine growth retardation
15 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
3/20
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004328.4(BCS1L):c.-262G>T617BCS1LUncertain significance886055624RCV000260413; RCV000355262; RCV000315836; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1852372,OMIM:1240002219524463219524463-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-259+1G>A617BCS1LUncertain significance1553595158RCV000672234; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219524467219524467-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-259+1G>T617BCS1LUncertain significance1553595158RCV000670392; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219524467219524467-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-259+2T>G617BCS1LUncertain significance1553595166RCV000671957; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219524468219524468-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-147A>G617BCS1LUncertain significance898301590RCV000668517; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219524871219524871-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-127T>C617BCS1LUncertain significance886055625RCV000275953; RCV000389070; RCV000330985; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1852372,OMIM:1240002219524891219524891-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-94T>G617BCS1LUncertain significance188224298RCV000346257; RCV000385604; RCV000291289; RCV000676998; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1852372,OMIM:124000; MedGen:CN5172022219524924219524924-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-50+155T>A617BCS1LUncertain significance386833855RCV000049824; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219525123219525123-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-43G>A617BCS1LConflicting interpretations of pathogenicity145989550RCV000382259; RCV000289306; RCV000341934; RCV000198605; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1852372,OMIM:124000; MedGen:CN1693742219525668219525668-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.-14G>A617BCS1LConflicting interpretations of pathogenicity367721351RCV000340599; RCV000395551; RCV000302189; RCV000605569; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1852372,OMIM:124000; MedGen:CN1693742219525697219525697-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.53delC (p.Ala18Valfs)617BCS1LLikely pathogenic1553595997RCV000670398; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219525762219525763-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.112C>G (p.Leu38Val)617BCS1LUncertain significance886055626RCV000402322; RCV000300923; RCV000353398; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1852372,OMIM:1240002219525822219525822-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.134G>A (p.Arg45His)617BCS1LUncertain significance754414354RCV000670241; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219525844219525844-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.166C>T (p.Arg56Ter)617BCS1LPathogenic/Likely pathogenic121908576RCV000260660; RCV000576565; RCV000006544; RCV000195481; NMedGen:CN239240; MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C1852372,OMIM:124000; MedGen:CN5172022219525876219525876OMIM Allelic Variant:603647.0007CN239240 BCS1L-Related Disorders;
NM_004328.4(BCS1L):c.201C>T (p.Leu67=)617BCS1LUncertain significance142540289RCV000313563; RCV000273790; RCV000370613; RCV000376147; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1852372,OMIM:124000; MedGen:CN5172022219525911219525911-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.205C>T (p.Arg69Cys)617BCS1LConflicting interpretations of pathogenicity377025174RCV000675122; RCV000623904; RCV000415034; RCV000197059; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MeSH:D030342,MedGen:C0950123; MedGen:C1852372,OMIM:124000; MedGen:CN5172022219525915219525915-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.217C>T (p.Arg73Cys)617BCS1LUncertain significance140812286RCV000670706; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219525927219525927-C1864002 603358 GRACILE syndrome;
NM_001257342.1(BCS1L):c.232A>G (p.Ser78Gly)617BCS1LPathogenic28937590RCV000006542; RCV000519547; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:CN5172022219525942219525942OMIM Allelic Variant:603647.0005,UniProtKB (protein):Q9Y276#VAR_018149C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.245C>A (p.Ser82Ter)617BCS1LLikely pathogenic749196764RCV000410534; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219525955219525955-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.255_257delGCA (p.Gln85del)617BCS1LUncertain significance1553596345RCV000672098; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219525962219525965-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.258T>C (p.His86=)617BCS1LUncertain significance886055627RCV000330882; RCV000272188; RCV000364504; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1852372,OMIM:1240002219525968219525968-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.269G>A (p.Arg90His)617BCS1LConflicting interpretations of pathogenicity747956412RCV000671152; RCV000197987; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:CN5172022219525979219525979-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.291_293delTGT (p.Val98del)617BCS1LUncertain significance1293818477RCV000670438; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219525999219526002-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.296C>T (p.Pro99Leu)617BCS1LLikely pathogenic121908572RCV000665386; RCV000006539; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C18505982219526006219526006OMIM Allelic Variant:603647.0002,UniProtKB (protein):Q9Y276#VAR_018159C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.320+1G>T617BCS1LLikely pathogenic386833856RCV000049825; RCV000489556; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:CN5172022219526031219526031-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.321-12G>A617BCS1LUncertain significance776363896RCV000382055; RCV000285241; RCV000324948; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1852372,OMIM:1240002219526117219526117-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.349C>T (p.Arg117Ter)617BCS1LLikely pathogenic777735526RCV000409388; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219526157219526157-C1864002 603358 GRACILE syndrome;
NM_001257344.1(BCS1L):c.372dup (p.Asp125Argfs)617BCS1LLikely pathogenic1553596638RCV000673264; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219526179219526179-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.413C>T (p.Thr138Met)617BCS1LUncertain significance775793638RCV000666979; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219526221219526221-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.418delC (p.Leu140Trpfs)617BCS1LLikely pathogenic1057517412RCV000409243; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219526226219526226-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.431G>A (p.Arg144Gln)617BCS1LLikely pathogenic386833857RCV000049826; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219526239219526239UniProtKB (protein):Q9Y276#VAR_018160C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.460+1G>A617BCS1LLikely pathogenic1553596761RCV000673227; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219526269219526269-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.460+2T>C617BCS1LLikely pathogenic1057516954RCV000409791; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219526270219526270-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.472delG (p.Ala158Profs)617BCS1LLikely pathogenic1553596929RCV000674598; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219526492219526493-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.534delC (p.Phe179Leufs)617BCS1LLikely pathogenic1553596996RCV000674599; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219526552219526553-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.547C>T (p.Arg183Cys)617BCS1LConflicting interpretations of pathogenicity144885874RCV000674245; RCV000006550; RCV000521027; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C1852372,OMIM:124000; MedGen:CN5172022219526568219526568OMIM Allelic Variant:603647.0012,UniProtKB (protein):Q9Y276#VAR_064617C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.556C>T (p.Arg186Ter)617BCS1LLikely pathogenic779331797RCV000409533; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219526577219526577-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.598C>T (p.Arg200Ter)617BCS1LPathogenic/Likely pathogenic776838028RCV000671925; RCV000415338; RCV000497971; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C1852372,OMIM:124000; MedGen:CN5172022219526619219526619-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.607_615del9 (p.Arg203_Val205del)617BCS1LUncertain significance1553597114RCV000666246; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219526624219526633-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.607dupA (p.Arg203Lysfs)617BCS1LLikely pathogenic1057516255RCV000410319; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219526628219526628-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.628G>A (p.Asp210Asn)617BCS1LBenign/Likely benign58447305RCV000324040; RCV000281286; RCV000376268; RCV000677000; RCV000123832; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1852372,OMIM:124000; MedGen:CN517202; MedGen:CN1693742219526649219526649-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.655+1G>A617BCS1LLikely pathogenic1057516802RCV000410918; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219526677219526677-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.703G>A (p.Gly235Arg)617BCS1LUncertain significance368486097RCV000670051; RCV000255431; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:CN1693742219526967219526967-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.768C>G (p.Leu256=)617BCS1LUncertain significance781666793RCV000394839; RCV000338686; RCV000279975; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1852372,OMIM:1240002219527281219527281-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.772delG (p.Asp258Thrfs)617BCS1LLikely pathogenic1363475546RCV000670440; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219527283219527284-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.821delC (p.Pro274Argfs)617BCS1LLikely pathogenic760559534RCV000671907; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219527330219527331-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.822G>A (p.Pro274=)617BCS1LConflicting interpretations of pathogenicity112329020RCV000401551; RCV000311482; RCV000351273; RCV000426045; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1852372,OMIM:124000; MedGen:CN1693742219527335219527335-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.871C>T (p.Arg291Ter)617BCS1LConflicting interpretations of pathogenicity201454788RCV000368540; RCV000675151; RCV000586158; RCV000195977; NMedGen:CN239240; MedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0266006,OMIM:262000, Orphanet:ORPHA123,SNOMED CT:67817003; MedGen:CN5172022219527384219527384-CN239240 BCS1L-Related Disorders;
NM_004328.4(BCS1L):c.889+1G>T617BCS1LPathogenic/Likely pathogenic1057516346RCV000411192; RCV000522697; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:CN5172022219527403219527403-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.889+1G>A617BCS1LLikely pathogenic1057516346RCV000665667; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219527403219527403-C1864002 603358 GRACILE syndrome;
NM_001257344.1(BCS1L):c.889+2dup617BCS1LUncertain significance1553597661RCV000669828; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219527403219527403-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.973dupC (p.Arg325Profs)617BCS1LLikely pathogenic1057516518RCV000412303; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219527689219527689-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.980T>C (p.Val327Ala)617BCS1LLikely pathogenic386833858RCV000049827; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219527696219527696UniProtKB (protein):Q9Y276#VAR_018163C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.996C>T (p.Asn332=)617BCS1LBenign/Likely benign33946522RCV000401829; RCV000310745; RCV000363248; RCV000677001; RCV000123833; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1852372,OMIM:124000; MedGen:CN517202; MedGen:CN1693742219527712219527712-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.1007+2_1007+5delTAGG617BCS1LLikely pathogenic1553597934RCV000665738; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219527721219527725-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.1017T>C (p.Pro339=)617BCS1LBenign/Likely benign35843327RCV000323471; RCV000361877; RCV000270977; RCV000677002; RCV000123835; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA53693; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1852372,OMIM:124000; MedGen:CN517202; MedGen:CN1693742219527866219527866-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.1036C>T (p.Arg346Ter)617BCS1LLikely pathogenic550497120RCV000670083; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219527885219527885-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.1048_1050delAAG (p.Lys350del)617BCS1LUncertain significance906812769RCV000667122; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219527895219527898-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.1127T>A (p.Leu376Ter)617BCS1LLikely pathogenic1553598145RCV000674449; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219527976219527976-C1864002 603358 GRACILE syndrome;
NM_001257344.1(BCS1L):c.1196_1198dup (p.Tyr399_Phe400insTyr)617BCS1LUncertain significance1553598193RCV000674094; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219528042219528042-C1864002 603358 GRACILE syndrome;
NM_004328.4(BCS1L):c.1244_1245delAG (p.Glu415Valfs)617BCS1LLikely pathogenic1057516786RCV000411872; NMedGen:C1864002,OMIM:603358, Orphanet:ORPHA536932219528093219528094-C1864002 603358 GRACILE syndrome;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000074582 MSeqDR Search EnsemblBCS1L1561BC1 (ubiquinol-cytochrome c reductase) synthesis-like [Source:HGNC Symbol;Acc:1020]00104

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