Microcephalic Primordial Dwarfism-insulin Resistance Syndrome

Clinical Features

Phenotypes and symptoms related to Microcephalic Primordial Dwarfism-insulin Resistance Syndrome

  • Micrognathia
  • Hepatic steatosis
  • Retinal detachment
  • Hypertriglyceridemia
  • Congenital blindness
  • Insulin-resistant diabetes mellitus
  • Primary gonadal insufficiency
  • Severe short-limb dwarfism
  • Malar prominence

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.

Microcephalic Primordial Dwarfism-insulin Resistance Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Primordial Dwarfism Panel.

By Genetic Services Laboratory University of Chicago (United States).

PLK4, XRCC4, CRIPT, PCNT, ORC6, CENPJ, CDC6, GMNN, RTTN, CDK5RAP2, CUL7, POC1A, CDT1, LARP7, CCDC8, SASS6, CEP63, OBSL1, CEP152, DNA2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
50 %
Primordial Dwarfism via XRCC4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

XRCC4
Specificity
100 %
Genes
50 %
Microcephalic primordial dwarfism Comprehensive panel.

By Connective Tissue Gene Tests (United States).

XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Microcephalic primordial dwarfism Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Microcephalic primordial dwarfism NGS panel.

By Connective Tissue Gene Tests (United States).

XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Lig4-Syndrome and LIG4-Syndrome-like.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

XRCC4, LIG4
Specificity
50 %
Genes
50 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
50 %

You can get up to 7 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYOCLONIC-ATONIC EPILEPSY; MAE SHORT STATURE, IDIOPATHIC, X-LINKED; ISS EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36; EIEE36 FEINGOLD SYNDROME 1; FGLDS1 22Q11.2 DELETION SYNDROME AMELOGENESIS IMPERFECTA-GINGIVAL HYPERPLASIA SYNDROME HOLOPROSENCEPHALY 7; HPE7