Growth Restriction, Severe, With Distinctive Facies; Grdf

Clinical Features

Top most frequent phenotypes and symptoms related to Growth Restriction, Severe, With Distinctive Facies; Grdf

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears
  • Flexion contracture
  • Feeding difficulties
  • Motor delay
  • Macrocephaly
  • Frontal bossing

And another 16 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

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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Growth Restriction, Severe, With Distinctive Facies; Grdf Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Silver-Russell syndrome.

By Centogene AG - the Rare Disease Company (Germany).

IGF2
Specificity
100 %
Genes
100 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL (Spain).

RS1, RUNX2, SALL1, SCN1A, BMPR1A, SH2D1A, SEM1, SHH, SHOX, SIM1, SIX3, SLC12A1, SLC12A3, FOXL2, BRAF, SMC1A, SNRPN, SOS1, SOX2, SOX3 , (...)

View the complete list with 105 more genes
Specificity
1 %
Genes
100 %
Russell-Silver syndrome: Methylation detection and deletions-duplications analysis (MLPA) (KvDMR / H19DMR domains).

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

CDKN1C, H19, IGF2, KCNQ1, KCNQ1OT1
Specificity
20 %
Genes
100 %
IGF2.

By Fulgent Genetics Fulgent Genetics (United States).

IGF2
Specificity
100 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics (United States).

RPS19, RUNX2, SALL1, SCN1A, SCN2A, SDHB, SDHD, BMPR1A, SGCE, SH2D1A, SEM1, FBXW4, SHH, SHOX, SIX3, FOXL2, SLC2A1, SLC3A1, SOX10, SOX2 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics (United States).

RPS19, RUNX2, SALL1, SCN1A, SCN2A, SDHB, SDHD, BMPR1A, SGCE, SH2D1A, SEM1, FBXW4, SHH, SHOX, SIX3, FOXL2, SLC2A1, SLC3A1, SOX10, SOX2 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. (United States).

BCL6, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, FOXL2, BRAF, BRCA1, BRCA2, SLIT2, SMARCA4, SMARCB1, ARID1A, KDM5C, SMO, SNCAIP , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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