Microcephaly 15, Primary, Autosomal Recessive; Mcph15

Clinical Features

Top most frequent phenotypes and symptoms related to Microcephaly 15, Primary, Autosomal Recessive; Mcph15

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hyperreflexia
  • Talipes equinovarus
  • Ventriculomegaly
  • Hypoplasia of the corpus callosum
  • Intellectual disability, severe

And another 10 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.

Microcephaly 15, Primary, Autosomal Recessive; Mcph15 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 %
MFSD2A.

By Fulgent Genetics Fulgent Genetics (United States).

MFSD2A
Specificity
100 %
Genes
100 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By Blueprint Genetics (Finland).

STIL, PLK4, VRK1, XRCC4, GFM1, CASK, PCNT, TUBGCP4, STAMBP, CENPJ, NDE1, EXOSC3, TUBGCP6, CENPF, RTTN, CDK5RAP2, ASPM, MBD5, RARS2, WDR62 , (...)

View the complete list with 28 more genes
Specificity
3 %
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 %

You can get up to -1 more panels with our dedicated tool

Learn more

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 POLYCYSTIC OVARY SYNDROME 1; PCOS1 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB AMELOGENESIS IMPERFECTA-GINGIVAL HYPERPLASIA SYNDROME BRUGADA SYNDROME 7; BRGDA7