Intrauterine Growth Restriction-short Stature-early Adult-onset Diabetes Syndrome

Clinical Features

Phenotypes and symptoms related to Intrauterine Growth Restriction-short Stature-early Adult-onset Diabetes Syndrome

  • Short stature
  • Intrauterine growth retardation
  • Decreased testicular size

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

Doctors, researchs, and experts related to Intrauterine Growth Restriction-short Stature-early Adult-onset Diabetes Syndrome extracted from public data.

Intrauterine Growth Restriction-short Stature-early Adult-onset Diabetes Syndrome Experts map



Current Researchs and researchers

  • NYI UK — Institution: Information not provided - UK



    • Institution/s:
      — Institution: Information not provided - UK
    • Research area/topic::

      Who will benefit from bariatric surgery for diabetes? Using genetic markers and measurement of fat distribution to predict remission of diabetes


Intrauterine Growth Restriction-short Stature-early Adult-onset Diabetes Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Renal Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

SDHA, SDHB, SDHC, SDHD, VHL, WT1, CDKN1C, SDHAF2, FLCN, FH, GPC3, MET, PTEN
Specificity
8 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
NGS Overgrowth/Macrocephaly Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

MED12, NSD1, CDKN1C, PHF6, UPF3B, RNF135, CUL4B, DNMT3A, EZH2, GLI3, GPC3, NFIX, PTCH1, PTEN
Specificity
8 %
Genes
100 %
Beckwith-Wiedemann Syndrome (CDKN1C) Sequencing.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

CDKN1C
Specificity
100 %
Genes
100 %
Chacot-Marie-Tooth Disease, Type 1A MLPA.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

CDKN1C
Specificity
100 %
Genes
100 %
Test for Beckwith-Wiedemann Syndrome.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

CDKN1C, H19, KCNQ1OT1
Specificity
34 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
Beckwith-Wiedemann Syndrome.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

CDKN1C
Specificity
100 %
Genes
100 %

You can get up to 99 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO SWEENEY-COX SYNDROME; SWCOS PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY COLD-INDUCED SWEATING SYNDROME 2; CISS2 YUAN-HAREL-LUPSKI SYNDROME; YUHAL ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS; HANAC NIJMEGEN BREAKAGE SYNDROME; NBS