Microcephaly 10, Primary, Autosomal Recessive; Mcph10

Description

Primary microcephaly-10 (MCPH10) is an autosomal recessive disorder characterized by extremely small head size (-9 SD) at birth and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation (summary by Yang et al., 2012).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 10, Primary, Autosomal Recessive; Mcph10

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture
  • Intrauterine growth retardation
  • Ventriculomegaly
  • Cerebellar atrophy
  • Cerebral atrophy
  • Anal atresia
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

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Microcephaly 10, Primary, Autosomal Recessive; Mcph10 Recommended genes panels

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

By Genetic Services Laboratory University of Chicago in United States.

SLC25A19, WDR62, MCPH1, ARFGEF2, CENPJ, NDE1, STIL, PNKP, CEP152, CDK5RAP2, CENPF, STAMBP, MED17, CIT, AGMO, SASS6, MFSD2A, CENPE, PHC1, CDK6 , (...)

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

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

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

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).

By CGC Genetics in Portugal.

SLC25A19, DNM1L, RARS2, WDR62, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, DYRK1A, PNKP, OPHN1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Microcephaly.

By Institute of Human Genetics Cologne University in Germany.

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

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By CeGaT GmbH in Germany.

SLC25A19, RARS2, WDR62, DYNC1H1, VRK1, MCPH1, ASPM, MBD5, CENPJ, PQBP1, TSEN54, STIL, DYRK1A, PNKP, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By CeGaT GmbH in Germany.

SLC25A19, RARS2, WDR62, DYNC1H1, VRK1, MCPH1, ASPM, MBD5, CENPJ, PQBP1, TSEN54, STIL, DYRK1A, PNKP, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
ZNF335.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF335
Specificity
100 %
Genes
100 %

Alternate names

Microcephaly 10, Primary, Autosomal Recessive; Mcph10 Is also known as ;microcephalic primordial dwarfism, walsh type.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VON WILLEBRAND DISEASE, TYPE 3; VWD3 MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D FRONTOMETAPHYSEAL DYSPLASIA AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more