Bruck Syndrome 2; Brks2

Description

Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.

Clinical Features

Top most frequent phenotypes and symptoms related to Bruck Syndrome 2; Brks2

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Talipes equinovarus
  • Respiratory insufficiency
  • Kyphosis
  • Inguinal hernia
  • Hernia
  • Osteoporosis
  • Osteopenia
And another 15 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Bruck Syndrome 2; Brks2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
PLOD2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PLOD2
Specificity
100 %
Genes
50 %
PLOD2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PLOD2
Specificity
100 %
Genes
50 %
PLOD2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

PLOD2
Specificity
100 %
Genes
50 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

ALPL, FKBP10, B4GALT7, IFITM5, COL1A1, COL1A2, COL3A1, SLC34A1, TNFRSF11A, FBN1, SERPINF1, SP7, PLOD3, SLC39A13, SLC9A3R1, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FKBP10, COL3A1, FBN1, PLOD3, SLC39A13, PLOD2, ALG2, CHAT, CHRNE, DOK7, NEB, RAPSN, DNM2, LMNA, UBA1, TPM3, ACTA1, CNTN1, TPM2, MYH2 , (...)

View the complete list with 37 more genes
Specificity
4 %
Genes
100 %
Osteogenesis Imperfecta and Genetic Bone Disorders Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, PLOD3, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, MBTPS2, PLS3, TAPT1, SPARC, XYLT2 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
100 %
PLOD2 - Bruck syndrome 2.

By Centre of Molecular Diseases (CMM) CHUV in Switzerland.

PLOD2
Specificity
100 %
Genes
50 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, CASR, PHEX, FGF23, PLS3, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
100 %
Osteogenesis Imperfecta, autosomal recessive-Bruck syndrome 2.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

PLOD2
Specificity
100 %
Genes
50 %
PLOD2. Complete sequencing.

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

PLOD2
Specificity
100 %
Genes
50 %
Bruck syndrome 2 (BRKS2, sequence analysis of PLOD2 gene).

By CGC Genetics in Portugal.

PLOD2
Specificity
100 %
Genes
50 %
Bruck syndrome 2 (BRKS2, sequence analysis of PLOD2 gene).

By CGC Genetics in Portugal.

PLOD2
Specificity
100 %
Genes
50 %
Osteogenesis imperfecta (NGS panel for 16 genes).

By CGC Genetics in Portugal.

FKBP10, IFITM5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, CREB3L1
Specificity
13 %
Genes
100 %
Osteogenesis Imperfecta-Bruck Syndrome Type II via the PLOD2 Gene.

By PreventionGenetics PreventionGenetics in United States.

PLOD2
Specificity
100 %
Genes
50 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
100 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
11 %
Genes
100 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, PHEX, FGF23, PLS3, TMEM38B, BMP1, WNT1, SERPINH1 , (...)

View the complete list with 5 more genes
Specificity
8 %
Genes
100 %
Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 4 more genes
Specificity
9 %
Genes
100 %
Osteogenesis imperfecta Deletion / Duplication panel - Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
11 %
Genes
100 %
Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 4 more genes
Specificity
9 %
Genes
100 %
Osteogenesis imperfecta NGS panel - Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
11 %
Genes
100 %
Osteogenesis imperfecta Comprehensive panel - Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, LRP5, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1
Specificity
11 %
Genes
100 %
Osteogenesis imperfecta NGS panel - Dominant & Recessive.

By Connective Tissue Gene Tests in United States.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, MBTPS2, PLS3, TAPT1, SPARC, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 4 more genes
Specificity
9 %
Genes
100 %
Bruck syndrom 2.

By Institute of Human Genetics Cologne University in Germany.

PLOD2
Specificity
100 %
Genes
50 %
Osteogenesis imperfecta and osteoporosis - different panels.

By Institute of Human Genetics Cologne University in Germany.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, PLS3, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
100 %
Osteogenesis imperfecta with congenital joint contractures.

By Centogene AG - the Rare Disease Company in Germany.

PLOD2
Specificity
100 %
Genes
50 %
Osteogenesis imperfecta panel, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

FKBP10, SP7, P3H1, CRTAP, PLOD2, PPIB, BMP1, SERPINH1
Specificity
25 %
Genes
100 %
Osteogenesis imperfecta with congenital joint contractures.

By Centogene AG - the Rare Disease Company in Germany.

PLOD2
Specificity
100 %
Genes
50 %
Congenital Myasthenic Syndromes and Arthrogryposis Panel.

By CeGaT GmbH in Germany.

FKBP10, PLOD2, ALG2, CHAT, DPAGT1, CHRNE, DOK7, RAPSN, DNM2, SCN4A, LAMB2, TPM2, SYNE1, PLEC, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
100 %
Chondrodysplasia punctata Panel.

By CeGaT GmbH in Germany.

FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, PYCR1, ATP6V0A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, ANO5, PLS3, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
PLOD2 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

PLOD2
Specificity
100 %
Genes
50 %
OI panel 2.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

FKBP10, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, MBTPS2, TAPT1, SPARC, XYLT2, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, P4HB, CREB3L1, B3GALT6
Specificity
11 %
Genes
100 %
Bruck syndrome 2.

By Praxis fuer Humangenetik Wien in Austria.

PLOD2
Specificity
100 %
Genes
50 %
Bruck syndrome 2.

By MedGene in Slovakia.

PLOD2
Specificity
100 %
Genes
50 %
Bruck, Syndrome type 2: PLOD2 gene sequence analysis.

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

PLOD2
Specificity
100 %
Genes
50 %
OSTEOGENESIS IMPERFECTA.

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

FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, ANO5, BMP1, SERPINH1
Specificity
15 %
Genes
100 %
NGS panel - Osteogenesis Imperfecta and related disorders.

By Genome Diagnostics VU University Medical Center in Netherlands.

ALPL, FKBP10, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PLS3, TAPT1, TMEM38B, BMP1, WNT1, SERPINH1, CREB3L1
Specificity
11 %
Genes
100 %
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, TNFRSF11A, PYCR1, ATP6V0A2, SP7, P3H1, CRTAP, PLOD2, PPIB, LMNA, CASR, PHEX , (...)

View the complete list with 14 more genes
Specificity
6 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
2 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
2 %
Genes
100 %
PLOD2.

By Fulgent Genetics Fulgent Genetics in United States.

PLOD2
Specificity
100 %
Genes
50 %
Osteogenesis Imperfecta Panel.

By Blueprint Genetics in Finland.

ALPL, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, PHEX, FGF23, MBTPS2, PLS3, SPARC, TMEM38B, BMP1 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
100 %
Arthrogryposes Panel.

By Blueprint Genetics in Finland.

FKBP10, RARS2, TK2, PLOD2, SCO2, CHAT, GBE1, PMM2, DPAGT1, GBA, CHRNE, DOK7, FKTN, NEB, RAPSN, TRPV4, MPZ, EGR2, FHL1, SELENON , (...)

View the complete list with 49 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
2 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Skeletal Dysplasia with Abnormal Mineralization Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, B4GALT7, COL1A1, COL1A2, COL3A1, TNFRSF11A, FBN1, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, TNFRSF11B, COL5A1, COL5A2, VDR , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel.

By Insight Medical Genetics in United States.

ALPL, FKBP10, IFITM5, COL2A1, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, AGPS, PPIB, FGFR3, FGFR2, PEX7, SLC26A2, FGFR1, COL11A1, TWIST1 , (...)

View the complete list with 13 more genes
Specificity
7 %
Genes
100 %
Bruck syndrome 2.

By Bioarray in Spain.

PLOD2
Specificity
100 %
Genes
50 %
BRUCKS SYNDROME (OSTEOGENESIS IMPERFECTA-CONGENITAL JOINT CONTRACTURES).

By Laboratorio de Genetica Clinica SL in Spain.

FKBP10, PLOD2
Specificity
100 %
Genes
100 %
Bruck Syndrome Type 2, Sequencing PLOD2 Gene.

By Reference Laboratory Genetics in Spain.

PLOD2
Specificity
100 %
Genes
50 %
Osteogenesis Imperfecta , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

FKBP10, IFITM5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, BMP1, SERPINH1
Specificity
17 %
Genes
100 %
Bruck Syndrome , Panel Massive Sequencing (NGS) FKBP10, PLOD2 Genes.

By Reference Laboratory Genetics in Spain.

FKBP10, PLOD2
Specificity
100 %
Genes
100 %
FKBP10 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FKBP10
Specificity
100 %
Genes
50 %
FKBP10 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FKBP10
Specificity
100 %
Genes
50 %
FKBP10 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FKBP10
Specificity
100 %
Genes
50 %
FKBP10 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

FKBP10
Specificity
100 %
Genes
50 %
Osteogenesis Imperfecta (FKBP10 gene related).

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

FKBP10
Specificity
100 %
Genes
50 %
FKBP10 - Osteogenesis imperfecta type 6.

By Centre of Molecular Diseases (CMM) CHUV in Switzerland.

FKBP10
Specificity
100 %
Genes
50 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes).

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

ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal.

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

ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
50 %
Osteogenesis Imperfecta, autosomal recessive-Bruck syndrome 1.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

FKBP10
Specificity
100 %
Genes
50 %
Osteogenesis Imperfecta, autosomal recessive-FKBP10.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

FKBP10
Specificity
100 %
Genes
50 %
Osteogenesis imperfecta type XI (sequence analysis of FKBP10 gene).

By CGC Genetics in Portugal.

FKBP10
Specificity
100 %
Genes
50 %
Osteogenesis Imperfecta via FKBP10 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FKBP10
Specificity
100 %
Genes
50 %
FKBP10-related osteogenesis imperfecta.

By Institute of Human Genetics Cologne University in Germany.

FKBP10
Specificity
100 %
Genes
50 %
Osteogenesis imperfecta type 11.

By Centogene AG - the Rare Disease Company in Germany.

FKBP10
Specificity
100 %
Genes
50 %
Osteogenesis imperfecta type XI.

By Centogene AG - the Rare Disease Company in Germany.

FKBP10
Specificity
100 %
Genes
50 %
FKBP10 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

FKBP10
Specificity
100 %
Genes
50 %
Amelogenesis Imperfecta NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FKBP10, IFITM5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PPIB, DSPP, BMP1, SERPINH1, FAM20A, AMELX, DLX3, FAM83H, ENAM, KLK4, MMP20, WDR72
Specificity
5 %
Genes
50 %
FKBP10.

By Fulgent Genetics Fulgent Genetics in United States.

FKBP10
Specificity
100 %
Genes
50 %
OSTEOGENESIS IMPERFECTA (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

FKBP10, SERPINF1, SP7, P3H1, CRTAP, PPIB, BMP1, WNT1, SERPINH1
Specificity
12 %
Genes
50 %
Bruck Syndrome Type 1, Sequencing FKBP10 Gene.

By Reference Laboratory Genetics in Spain.

FKBP10
Specificity
100 %
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
50 %

Alternate names

Bruck Syndrome 2; Brks2 Is also known as osteogenesis imperfecta with congenital joint contractures;osteogenesis imperfecta-congenital joint contractures syndrome.



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