Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Syndrome 3; Mpph3

Description

This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. Most affected individuals have severely delayed psychomotor development (summary by Mirzaa et al., 2014).For a discussion of genetic heterogeneity of MPPH, see MPPH1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Syndrome 3; Mpph3

  • Global developmental delay
  • Macrocephaly
  • Ventriculomegaly
  • Hydrocephalus
  • Absent speech
  • Prominent forehead
  • Polydactyly
  • Polymicrogyria
  • Postaxial polydactyly
  • Postaxial hand polydactyly

And another 4 symptoms. If you need more information about this disease we can help you.

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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.


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Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Syndrome 3; Mpph3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Polymicrogyria Deletion/Duplication Panel.

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

TUBA8, RAB18, CCND2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, RTTN, TUBA1A, TUBB3, KIF1BP, WDR62, GPSM2, TUBB2B, ADGRG1, OCLN
Specificity
7 %
Genes
100 %
Cerebral Cortical Malformation Sequencing Panel.

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

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Polymicrogyria Sequencing Panel.

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

TUBA8, RAB18, CCND2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, RTTN, TUBA1A, TUBB3, KIF1BP, WDR62, GPSM2, TUBB2B, ADGRG1, OCLN
Specificity
7 %
Genes
100 %
Cerebral Cortical Malformations Deletion/Duplication Panel.

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

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes).

By CGC Genetics (Portugal).

NPRL3, CCND2, DEPDC5, EZH2, AKT3, MTOR, PIK3CA, PIK3R2
Specificity
13 %
Genes
100 %
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes).

By CGC Genetics (Portugal).

NPRL3, CCND2, DEPDC5, EZH2, AKT3, MTOR, PIK3CA, PIK3R2
Specificity
13 %
Genes
100 %
Hydrocephalus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ZIC3, HDAC6, CCND2, CRB2, CCDC88C, FLVCR2, WDR81, DNAI1, EML1, AKT3, AP1S2, L1CAM, MPDZ, P4HB, PIK3R2, POMT1, PTEN
Specificity
6 %
Genes
100 %
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Comprehensive test.

By Connective Tissue Gene Tests (United States).

CCND2, AKT3, PIK3R2
Specificity
34 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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