Lymphoproliferative Syndrome, X-linked, 1; Xlp1

Description

X-linked lymphoproliferative syndrome, or Duncan disease, is a primary immunodeficiency characterized by severe immune dysregulation often after viral infection, typically with Epstein-Barr virus (EBV). It is a complex phenotype manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis (HLH), and/or malignant lymphoma. Other features may include aplastic anemia, red cell aplasia, and lymphomatoid granulomatosis (Purtilo et al., 1977; Purtilo, 1981; Purtilo and Grierson, 1991; Coffey et al., 1998; Booth et al., 2011). Genetic Heterogeneity of X-linked/Autosomal Lymphoproliferative SyndromeSee XLP2 (OMIM ), caused by mutation in the XIAP gene (OMIM ), also on Xq25; LPFS1 (OMIM ), caused by mutation in the ITK gene (OMIM ) on chromosome 5q33; and LPFS2 (OMIM ), caused by mutation in the CD27 gene (OMIM ) on chromosome 12p13.

Clinical Features

Top most frequent phenotypes and symptoms related to Lymphoproliferative Syndrome, X-linked, 1; Xlp1

  • Seizures
  • Pica
  • Anemia
  • Neoplasm
  • Hepatomegaly
  • Splenomegaly
  • Fever
  • Coma
  • Thrombocytopenia
  • Pneumonia
And another 41 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Lymphoproliferative Syndrome, X-linked, 1; Xlp1 have a estimated prevalence of 0.05 per 100k worldwide.


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Lymphoproliferative Syndrome, X-linked, 1; Xlp1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
X-linked lymphoproliferative syndrome 1.

By Center for Human Genetics, Inc in United States.

SH2D1A
Specificity
100 %
Genes
50 %
X-linked Lymphoproliferative Disease (XLP): SH2D1A (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

SH2D1A
Specificity
100 %
Genes
50 %
X-linked Lymphoproliferative Disease (XLP): SH2D1A (Known Mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

SH2D1A
Specificity
100 %
Genes
50 %
SH2D1A Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SH2D1A
Specificity
100 %
Genes
50 %
Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

AP3B1, PRF1, SLC7A7, MAGT1, BLOC1S6, LYST, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2, ITK, CD27
Specificity
15 %
Genes
100 %
Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

AP3B1, PRF1, SLC7A7, MAGT1, BLOC1S6, LYST, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2, ITK, CD27
Specificity
15 %
Genes
100 %
SH2D1A Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SH2D1A
Specificity
100 %
Genes
50 %
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, ADA, BLM, ATM, NBN, PRF1, WAS, NF1, MAGT1, DOCK8, SH2D1A, IKZF1, TNFRSF13B, FAS, FASLG, CASP10, STXBP2, ITK, PIK3CD , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
SH2D1A.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SH2D1A
Specificity
100 %
Genes
50 %
Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

UNG, ADA, IKBKG, ATM, MRE11, NBN, BTK, SH2D1A, TNFRSF13B, AICDA, CD40, CD40LG, RAG2, XIAP, PTPRC, PIK3CD, LRBA, NFKBIA, NFKB2, PIK3R1 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
100 %
SH2D1A. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SH2D1A
Specificity
100 %
Genes
50 %
SH2D1A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SH2D1A
Specificity
100 %
Genes
50 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
Humoral dysfunction Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
9 %
Genes
100 %
Humoral dysfunction Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
9 %
Genes
100 %
Humoral dysfunction Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
9 %
Genes
100 %
Lymphoproliferative syndrome 1, X-linked (sequence analysis of SH2D1A gene.

By CGC Genetics in Portugal.

SH2D1A
Specificity
100 %
Genes
50 %
Hyper IgM Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UNG, ATM, MRE11, NBN, BTK, SH2D1A, AICDA, CD40, CD40LG, PIK3CD, NFKBIA
Specificity
10 %
Genes
50 %
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AP3B1, ADA, IL2RG, PNP, PRF1, SLC7A7, WAS, BTK, NLRP3, MVK, MAGT1, BLOC1S6, LYST, MEFV, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2 , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
100 %
Familial Hemophagocytic Lymphohistiocytosis, X-linked Lymphoproliferative Disease via SH2D1A Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SH2D1A
Specificity
100 %
Genes
50 %
Agammaglobulinemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BTK, SH2D1A, PIK3R1, LRRC8A, BLNK, CD79A, CD79B, IGHM
Specificity
13 %
Genes
50 %
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CASP8, STAT3, KRAS, NRAS, MAGT1, SH2D1A, FAS, XIAP, FASLG, CASP10, ITK, PIK3CD, LRBA, FADD, CTLA4, PRKCD
Specificity
13 %
Genes
100 %
SAP (SH2D1A) Gene.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute in United States.

SH2D1A
Specificity
100 %
Genes
50 %
SH2D1A.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

SH2D1A
Specificity
100 %
Genes
50 %
HLH/immunedisregulation panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

AP3B1, PRF1, LYST, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2
Specificity
23 %
Genes
100 %
Lymphoproliferative syndrome, X-linked type 1.

By Centogene AG - the Rare Disease Company in Germany.

SH2D1A
Specificity
100 %
Genes
50 %
Agammaglobulinemia panel.

By Centogene AG - the Rare Disease Company in Germany.

BTK, SH2D1A, PIK3R1, LRRC8A, BLNK, CD79A, IGLL1, CD79B, IGHM
Specificity
12 %
Genes
50 %
SH2D1A-Related Lymphoproliferative Disease, X-Linked.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

SH2D1A
Specificity
100 %
Genes
50 %
Immune dysregulation Panel.

By CeGaT GmbH in Germany.

CASP8, AP3B1, AIRE, PRF1, TREX1, FOXP3, LYST, SH2D1A, RAB27A, UNC13D, FAS, STX11, XIAP, FASLG, CASP10, STXBP2, PRKCD, CARD11, IL2RA, ITCH , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
50 %
Invitae Monogenic Autoimmunity Panel.

By Invitae in United States.

STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...)

View the complete list with 53 more genes
Specificity
3 %
Genes
100 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae in United States.

STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1 , (...)

View the complete list with 26 more genes
Specificity
5 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel.

By Invitae in United States.

AP3B1, ADA, IL2RG, PNP, PRF1, SLC7A7, WAS, BTK, MVK, MAGT1, BLOC1S6, LYST, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2, ITK, CD27 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
100 %
Hemophagocytic lymphohistiocytosis, familial.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PRF1, SH2D1A, RAB27A, UNC13D, STX11, STXBP2
Specificity
17 %
Genes
50 %
Early Onset Inflammatory Bowel Disease: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
100 %
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
100 %
Hemophagocytic Lymphohistiocytosis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AP3B1, GATA2, PRF1, SLC7A7, MAGT1, BLOC1S6, LYST, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2, ITK, CD27, NLRC4
Specificity
13 %
Genes
100 %
SH2D1A.

By Fulgent Genetics Fulgent Genetics in United States.

SH2D1A
Specificity
100 %
Genes
50 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
2 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
50 %
Hemophagocytic Lymphohistiocytosis Panel.

By Blueprint Genetics in Finland.

RECQL4, PRF1, MAGT1, LYST, SH2D1A, MYO5A, RAB27A, UNC13D, FAS, STX11, XIAP, FASLG, STXBP2, ITK, FADD
Specificity
14 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)

View the complete list with 102 more genes
Specificity
2 %
Genes
100 %
X-linked lymphoproliferative disease type 1.

By Bioarray in Spain.

SH2D1A
Specificity
100 %
Genes
50 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED (DUNCAN DISEASE).

By Laboratorio de Genetica Clinica SL in Spain.

SH2D1A, XIAP
Specificity
100 %
Genes
100 %
X-Linked Lymphoproliferative Syndrome Type 1 , Sequencing SH2D1A Gene.

By Reference Laboratory Genetics in Spain.

SH2D1A
Specificity
100 %
Genes
50 %
Lymphoproliferative Syndrome , Deletions-Duplications (MLPA) SH2D1A,XIAP, ITK Genes.

By Reference Laboratory Genetics in Spain.

SH2D1A, XIAP, ITK
Specificity
67 %
Genes
100 %
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes.

By Reference Laboratory Genetics in Spain.

STAT1, TGFB1, STAT3, IKBKG, GATA2, DCLRE1C, BTK, SH2D1A, TNFRSF13B, AICDA, CD40, CD40LG, RAG2, RAG1, AKT1, CXCR4, PIK3CD, NFKBIA, CTLA4, IL17F , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
Familial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes.

By Reference Laboratory Genetics in Spain.

AP3B1, PRF1, SLC7A7, MAGT1, BLOC1S6, LYST, SH2D1A, RAB27A, RAG2, RAG1, UNC13D, STX11, XIAP, STXBP2, ITK, CD27
Specificity
13 %
Genes
100 %
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes.

By Reference Laboratory Genetics in Spain.

TGFB1, CYBA, IL2RG, IKBKG, TINF2, CYBB, WAS, GATA3, FOXP1, FOXP3, DKC1, ABCB1, TERC, TERT, SH2D1A, NCF2, NCF4, WRAP53, NOD2, CD40LG , (...)

View the complete list with 25 more genes
Specificity
5 %
Genes
100 %
Agammaglobulinemies, Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

BTK, SH2D1A, PIK3R1, LRRC8A, BLNK, CD79A, IGLL1, CD79B, IGHM
Specificity
12 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Lymphoproliferative Disease, X-Linked (Duncan Disease): gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SH2D1A, XIAP
Specificity
100 %
Genes
100 %
BIRC4 (XIAP) Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

XIAP
Specificity
100 %
Genes
50 %
BIRC4 (XIAP) Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

XIAP
Specificity
100 %
Genes
50 %
XIAP.

By Institute for Human Genetics University Clinic Freiburg in Germany.

XIAP
Specificity
100 %
Genes
50 %
XIAP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

XIAP
Specificity
100 %
Genes
50 %
Lymphoproliferative syndrome 2, X-linked (sequence analysis of XIAP gene).

By CGC Genetics in Portugal.

XIAP
Specificity
100 %
Genes
50 %
Familial Hemophagocytic Lymphohistiocytosis, X-linked Lymphoproliferative Disease via the XIAP/BIRC4 Gene.

By PreventionGenetics PreventionGenetics in United States.

XIAP
Specificity
100 %
Genes
50 %
XIAP (BIRC4) Gene.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute in United States.

XIAP
Specificity
100 %
Genes
50 %
XIAP.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

XIAP
Specificity
100 %
Genes
50 %
Lymphoproliferative syndrome, X-linked type 2.

By Centogene AG - the Rare Disease Company in Germany.

XIAP
Specificity
100 %
Genes
50 %
Single gene testing XIAP.

By CeGaT GmbH in Germany.

XIAP
Specificity
100 %
Genes
50 %
XIAP.

By Fulgent Genetics Fulgent Genetics in United States.

XIAP
Specificity
100 %
Genes
50 %
Congenital Diarrhea Panel.

By Blueprint Genetics in Finland.

EPCAM, CYP27A1, LIPA, MVK, NCF2, NEUROG3, XIAP, IL10RA, SI, TTC37, TTC7A, SKIV2L, IL10RB, IL10, SAR1B, LCT, SLC5A1, SLC26A3, MYO5B, STX3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
X-linked lymphoproliferative disease type 2.

By Bioarray in Spain.

XIAP
Specificity
100 %
Genes
50 %
X-Linked Lymphoproliferative Syndrome Type 2 , Sequencing XIAP Gene.

By Reference Laboratory Genetics in Spain.

XIAP
Specificity
100 %
Genes
50 %

Alternate names

Lymphoproliferative Syndrome, X-linked, 1; Xlp1 Is also known as xlp, lymphoproliferative disease, x-linked;xlpd, lyp, duncan disease, epstein-barr virus infection, familial fatal, ebv infection, severe, susceptibility to;ebvs, infectious mononucleosis, severe, susceptibility to, immunodeficiency, x-linked progressive combined variable, immunodeficiency 5;imd5, purtilo syndrome;duncan disease; purtilo syndrome; xlp.



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