Warburg Micro Syndrome 4; Warbm4

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 4; Warbm4

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ptosis
  • Cryptorchidism
  • Cataract
  • Spasticity
  • Flexion contracture
  • Visual impairment
And another 31 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Warburg Micro Syndrome 4; Warbm4 Recommended genes panels

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

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, TUBA1A, WDR62, NDE1, RAB3GAP1, TUBA8, ADGRG1, TUBB2B, KIF1BP, GPSM2, RAB3GAP2, RAB18, OCLN, CCND2, AKT3-IT1, TBC1D20, RTTN
Specificity
6 %
Genes
100 %
Cerebral Cortical Malformation Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, B4GAT1, POMGNT2, LARGE1, B3GALNT2, ARFGEF2, DCX, NDE1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Warburg Micro Syndrome Comprehensive Panel.

By Genetic Services Laboratory University of Chicago in United States.

RAB3GAP1, RAB3GAP2, RAB18, TBC1D20
Specificity
25 %
Genes
100 %
Polymicrogyria Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, TUBA1A, WDR62, NDE1, RAB3GAP1, TUBA8, ADGRG1, TUBB2B, KIF1BP, GPSM2, RAB3GAP2, RAB18, OCLN, CCND2, AKT3-IT1, TBC1D20, RTTN
Specificity
6 %
Genes
100 %
Warburg Micro Syndrome Sequencing panel.

By Genetic Services Laboratory University of Chicago in United States.

RAB3GAP1, RAB3GAP2, RAB18, TBC1D20
Specificity
25 %
Genes
100 %
Microcephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Cerebral Cortical Malformations Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, B4GAT1, POMGNT2, LARGE1, B3GALNT2, ARFGEF2, DCX, NDE1 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Warburg Micro Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RAB3GAP1, RAB3GAP2, RAB18, TBC1D20
Specificity
25 %
Genes
100 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, UBE3A, PTEN, ADSL, MFRP, NDP, MECP2, GAMT, GATM, STXBP1, MAOA, SLC9A6, SGSH, ARX, BRAF, CDKL5, CHD7, DHCR7, FOXG1, KRAS , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Cataract.

By MGZ Medical Genetics Center in Germany.

EYA1, COL2A1, PAX6, ABCB6, WFS1, FOXC1, PITX2, NHS, CRYAB, OPA3, FYCO1, GJA3, GALK1, CYP27A1, SIX6, GLA, SLC33A1, SIL1, COL4A1, RAB3GAP1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
100 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).

By MGZ Medical Genetics Center in Germany.

FOXL2, RAX, ABCB6, OCRL, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, RAB3GAP1, SIX3, VPS13B , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Micro syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

ALDH18A1, CREBBP, RAB3GAP1, RAB3GAP2, RAB18, TBC1D20, CUL7
Specificity
15 %
Genes
100 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
100 %
TBC1D20.

By Fulgent Genetics Fulgent Genetics in United States.

TBC1D20
Specificity
100 %
Genes
100 %
WARBURG MICRO SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

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

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