Microcephaly 13, Primary, Autosomal Recessive; Mcph13

Clinical Features

Top most frequent phenotypes and symptoms related to Microcephaly 13, Primary, Autosomal Recessive; Mcph13

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Abnormal facial shape
  • Spasticity
  • Intrauterine growth retardation
  • Cardiomyopathy

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

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Microcephaly 13, Primary, Autosomal Recessive; Mcph13 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 %
Mental retardation - different panels.

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

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Microcephaly, autosomal recessive type 13.

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

CENPE
Specificity
100 %
Genes
100 %
CENPE.

By Fulgent Genetics Fulgent Genetics (United States).

CENPE
Specificity
100 %
Genes
100 %
SYNDROME DE SECKEL: NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

PLK4, NIN, PCNT, CENPJ, CENPE, CEP63, CEP152, ATRIP, ATR, RBBP8
Specificity
10 %
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 %

We have 0 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like REVESZ SYNDROME JOUBERT SYNDROME 23; JBTS23 HYPERTRIGLYCERIDEMIA, FAMILIAL HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF BASAN SYNDROME ANGIOEDEMA, HEREDITARY, TYPE I; HAE1 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION; CMAVM

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more