Microcephaly 14, Primary, Autosomal Recessive; Mcph14
Genes related to Microcephaly 14, Primary, Autosomal Recessive; Mcph14
- SASS6
Clinical Features
Phenotypes and symptoms related to Microcephaly 14, Primary, Autosomal Recessive; Mcph14
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Intellectual disability, severe
- Cerebellar hypoplasia
- Aggressive behavior
- Poor speech
- Cerebellar vermis hypoplasia
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 14, Primary, Autosomal Recessive; Mcph14 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() 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 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
PLK4, XRCC4, CRIPT, PCNT, ORC6, CENPJ, CDC6, GMNN, RTTN, CDK5RAP2, CUL7, POC1A, CDT1, LARP7, CCDC8, SASS6, CEP63, OBSL1, CEP152, DNA2 , (...)
View the complete list with 8 more genes
Specificity
4 %
Genes
100 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() By Laboratorio de Genetica Clinica SL (Spain).
STIL, CENPJ, CDK6, CDK5RAP2, ASPM, KNL1, WDR62, SASS6, CEP63, CEP135, CEP152, PHC1, MCPH1
Specificity
8 %
Genes
100 % |
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Learn moreSources and references
You can check the following sources for additional information.
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