Microcephaly 11, Primary, Autosomal Recessive; Mcph11

Clinical Features

Phenotypes and symptoms related to Microcephaly 11, Primary, Autosomal Recessive; Mcph11

  • Short stature
  • Microcephaly

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.

Microcephaly 11, Primary, Autosomal Recessive; Mcph11 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Autosomal Recessive Primary Microcephaly Tier 2 panel.

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

STIL, SLC25A19, ZNF335, ARFGEF2, STAMBP, CENPJ, NDE1, CDK6, CENPE, CENPF, CDK5RAP2, CIT, MED17, KNL1, WDR62, SASS6, CEP63, MFSD2A, CEP135, CEP152 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Microcephaly Sequencing Panel.

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

STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Microcephaly Deletion/Duplication Panel.

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

STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
PHC1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

PHC1
Specificity
100 %
Genes
100 %
Microcephaly, autosomal recessive type 11.

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

PHC1
Specificity
100 %
Genes
100 %
Microcephaly primary autosomal recessive.

By Laboratorio de Genetica Clinica SL (Spain).

STIL, CENPJ, CDK6, CDK5RAP2, ASPM, CIT, KNL1, WDR62, SASS6, CEP63, MFSD2A, CEP135, ANKLE2, CEP152, PHC1, MCPH1
Specificity
7 %
Genes
100 %
PRIMARY MICROCEPHALY (AUTOSOMAL RECESSIVE) (VERA MICROCEPHALY).

By Laboratorio de Genetica Clinica SL (Spain).

STIL, CENPJ, CDK6, CDK5RAP2, ASPM, KNL1, WDR62, SASS6, CEP63, CEP135, CEP152, PHC1, MCPH1
Specificity
8 %
Genes
100 %
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada).

STIL, NIN, CENPJ, CDK6, CDK5RAP2, ASPM, KNL1, WDR62, CEP63, CEP135, CEP152, PHC1, ATRIP, MCPH1, ATR, RBBP8
Specificity
7 %
Genes
100 %

You can get up to 0 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM 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 MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME CORTISONE REDUCTASE DEFICIENCY 1; CORTRD1 CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4 FAMILIAL VISCERAL MYOPATHY PSEUDO-TORCH SYNDROME 2; PTORCH2 AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC