Microcephaly 15, Primary, Autosomal Recessive; Mcph15
Genes related to Microcephaly 15, Primary, Autosomal Recessive; Mcph15
- MFSD2A
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.
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 moreSources and references
You can check the following sources for additional information.
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