Microcephaly 7, Primary, Autosomal Recessive; Mcph7

Clinical Features

Top most frequent phenotypes and symptoms related to Microcephaly 7, Primary, Autosomal Recessive; Mcph7

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Strabismus
  • Absent speech
  • Cleft lip
  • Prominent nose

And another 4 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 7, Primary, Autosomal Recessive; Mcph7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc (United States).

SHH, STIL, SIX3, TUBA8, SLC25A19, DEAF1, ARFGEF2, RAB3GAP1, CENPJ, NDE1, FKRP, ARX, ASPM, POMGNT1, POMT2, TUBA1A, COL4A1, CPT2, WDR62, DCX , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Microcephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

STIL, SLC9A6, CDKL5, TCF4, UBE3A, RAB18, SLC25A19, ZEB2, CASK, PCNT, RAB3GAP1, RAB3GAP2, CENPJ, IER3IP1, CDK5RAP2, ASPM, TUBB3, WDR62, DHCR7, NIPBL , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
STIL sequencing.

By Genetic Services Laboratory University of Chicago (United States).

STIL
Specificity
100 %
Genes
100 %
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 %
Holoprosencephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SHH, STIL, SIX3, TGIF1, ZIC2, CDON, FGF8, FGFR1, GLI2, PTCH1
Specificity
10 %
Genes
100 %

You can get up to 36 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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