Microcephaly 12, Primary, Autosomal Recessive; Mcph12

Clinical Features

Phenotypes and symptoms related to Microcephaly 12, Primary, Autosomal Recessive; Mcph12

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Intellectual disability, mild
  • Abnormality of the nervous system
  • Sloping forehead
  • Cortical gyral simplification

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 12, Primary, Autosomal Recessive; Mcph12 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 %
CDK6.

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

CDK6
Specificity
100 %
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 %
Custom solid tumor gene sequencing panel.

By Molecular Diagnostics Laboratory University of Toledo Medical Center (United States).

SF3B1, FOXL2, BRAF, TP53, TYRP1, XPC, CCND1, CDK4, CDK6, CDKN2A, CDKN2B, CTNNB1, DDB2, RICTOR, EGFR, EIF1AX, ERBB2, ERBB3, ERBB4, ERCC2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Cancer Hotspot Panel.

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

BCL6, ROS1, BRAF, BRCA1, BRCA2, SMARCB1, SMO, SRC, STK11, HNF1A, TP53, TSC1, TSC2, VHL, EML4, BRD4, CCND1, CCNE1, FBXW7, CD74 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

STIL, CENPJ, CDK6, CDK5RAP2, ASPM, KNL1, WDR62, CEP63, CEP135, CEP152, MCPH1, ATR, RBBP8
Specificity
8 %
Genes
100 %

You can get up to 16 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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