Microcephaly 4, Primary, Autosomal Recessive; Mcph4

Description

Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Microcephaly 4, Primary, Autosomal Recessive; Mcph4

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Delayed speech and language development
  • Ventriculomegaly
  • Aggressive behavior
  • Intellectual disability, moderate

And another 7 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.

Microcephaly 4, Primary, Autosomal Recessive; Mcph4 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 %
Microcephaly 4, primary, AR (sequence analysis of CASC5 gene).

By CGC Genetics (Portugal).

KNL1
Specificity
100 %
Genes
100 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).

By CGC Genetics (Portugal).

STIL, BUB1B, TUBG1, VRK1, SLC25A19, NIN, CASK, TSEN34, ZNF335, PCNT, STAMBP, CLP1, CENPJ, NDE1, EXOSC3, TUBGCP6, IER3IP1, CDK5RAP2, ASPM, MBD5 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Primary Microcephaly, Autosomal Recessive, Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

STIL, CENPJ, CDK5RAP2, ASPM, CIT, KNL1, WDR62, CEP135, CEP152, MCPH1
Specificity
10 %
Genes
100 %
Microcephaly.

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

STIL, ZNF335, CENPJ, CDK5RAP2, ASPM, KNL1, WDR62, CEP63, CEP135, CEP152, MCPH1, PNKP
Specificity
9 %
Genes
100 %
AllNeuro panel.

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

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %

You can get up to 13 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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