Warburg Micro Syndrome 3; Warbm3

Description

Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010).For a discussion of genetic heterogeneity of Warburg Micro syndrome, see {600118}.

Clinical Features

Top most frequent phenotypes and symptoms related to Warburg Micro Syndrome 3; Warbm3

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus
  • Micrognathia
  • Cataract
  • Flexion contracture
  • Peripheral neuropathy

And another 41 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.

Alternative names

Warburg Micro Syndrome 3; Warbm3 Is also known as micro syndrome 3.

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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Warburg Micro Syndrome 3; Warbm3 Recommended genes panels

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

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

TUBA8, VLDLR, ACTB, RAB18, ACTG1, RAB3GAP1, RAB3GAP2, FKRP, ARX, RTTN, POMGNT1, POMT2, TUBA1A, TUBB3, KIF1BP, WDR62, DCX, TUBB2B, FKTN, ADGRG1 , (...)

View the complete list with 6 more genes
Specificity
4 %
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 %
Warburg Micro Syndrome Comprehensive Panel.

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

RAB18, TBC1D20, RAB3GAP1, RAB3GAP2
Specificity
25 %
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 %
Warburg Micro Syndrome Sequencing panel.

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

RAB18, TBC1D20, RAB3GAP1, RAB3GAP2
Specificity
25 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2 ORTHOSTATIC INTOLERANCE JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA ALPORT SYNDROME, X-LINKED; ATS MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G; LGMD1G

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