20p12.3 Microdeletion Syndrome

Description

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.

Clinical Features

Top most frequent phenotypes and symptoms related to 20p12.3 Microdeletion Syndrome

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge
  • Epicanthus
  • Downslanted palpebral fissures
  • Wide nasal bridge
  • Macrocephaly
And another 13 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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20p12.3 Microdeletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Brachydactyly type A2 (sequence analysis of BMP2 gene).

By CGC Genetics in Portugal.

BMP2
Specificity
100 %
Genes
100 %
Hemochromatosis (NGS panel for 8 genes).

By CGC Genetics in Portugal.

HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1, BMP2
Specificity
13 %
Genes
100 %
Hemochromatosis (NGS panel for 8 genes).

By CGC Genetics in Portugal.

HFE, FTL, SLC40A1, TFR2, HAMP, HJV, FTH1, BMP2
Specificity
13 %
Genes
100 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Congenital Central Hypoventilation Syndrome (CCHS) via BMP2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BMP2
Specificity
100 %
Genes
100 %
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 %
Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RET, PHOX2A, PHOX2B, EDN3, BDNF, ASCL1, BMP2
Specificity
15 %
Genes
100 %
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Comprehensive Test.

By Connective Tissue Gene Tests in United States.

BMP2
Specificity
100 %
Genes
100 %
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

BMP2
Specificity
100 %
Genes
100 %
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.

By Connective Tissue Gene Tests in United States.

BMP2
Specificity
100 %
Genes
100 %
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies NGS Test.

By Connective Tissue Gene Tests in United States.

BMP2
Specificity
100 %
Genes
100 %
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Comprehensive Test.

By Connective Tissue Gene Tests in United States.

BMP2
Specificity
100 %
Genes
100 %
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

BMP2
Specificity
100 %
Genes
100 %
Brachydactyly, type A2.

By Centogene AG - the Rare Disease Company in Germany.

BMP2
Specificity
100 %
Genes
100 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH in Germany.

TRPV4, GLI3, TP63, BMPR1B, GJA1, HOXA11, ROR2, WNT7A, LRP4, HOXD13, PTHLH, GDF5, WNT10B, BMP2, BHLHA9, IHH, FBLN1, NOG, LMBR1, FGF16
Specificity
5 %
Genes
100 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, CC2D2A, CEP290, SHH, MKS1, FGFR3, FGFR2, NIPBL, PIGV, SALL1, CHSY1, SOX9, GLI3, TP63, CDH3, BMPR1B, PITX1, FGF10, SALL4, TBX5 , (...)

View the complete list with 26 more genes
Specificity
3 %
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
1 %
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
1 %
Genes
100 %
BMP2.

By Fulgent Genetics Fulgent Genetics in United States.

BMP2
Specificity
100 %
Genes
100 %
Brachydactyly / Syndactyly Panel.

By Blueprint Genetics in Finland.

RECQL4, DHCR7, CHSY1, SOX9, TP63, BMPR1B, GNAS, MYCN, ESCO2, HOXA13, ROR2, CCNQ, PDE4D, PTDSS1, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
5 %
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 %
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 %
BRACHYDACTYLY TYPE A2 (BRACHYDACTYLY MOHR-WRIEDT TYPE).

By Laboratorio de Genetica Clinica SL in Spain.

BMPR1B, GDF5, BMP2
Specificity
34 %
Genes
100 %
Brachydactyly Type A2, Panel Massive Sequencing (NGS) BMPR1B, BMP2, GDF5 Genes.

By Reference Laboratory Genetics in Spain.

BMPR1B, GDF5, BMP2
Specificity
34 %
Genes
100 %
Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

RECQL4, CHSY1, SOX9, TP63, BMPR1B, GNAS, MGP, ESCO2, HOXA13, ROR2, TBX15, WNT7A, HOXD13, PTHLH, GDF5, BMP2, IHH, NOG
Specificity
6 %
Genes
100 %

Alternate names

20p12.3 Microdeletion Syndrome Is also known as del(20)(p12.3); monosomy 20p12.3.



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