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
  • Wide nasal bridge
  • Macrocephaly
  • Downslanted palpebral fissures

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.
No data available about the known clinical features onset.

Alternative names

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

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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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 (Portugal).

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

By CGC Genetics (Portugal).

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

By CGC Genetics (Portugal).

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

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
Congenital Central Hypoventilation Syndrome (CCHS) via BMP2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

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

By PreventionGenetics PreventionGenetics (United States).

BDNF, BMP2, EDN3, PHOX2A, ASCL1, PHOX2B, RET
Specificity
15 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Comprehensive Test.

By Connective Tissue Gene Tests (United States).

BMP2
Specificity
100 %
Genes
100 %

We have 17 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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