6q Terminal Deletion Syndrome

Description

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Clinical Features

Top most frequent phenotypes and symptoms related to 6q Terminal Deletion Syndrome

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Failure to thrive
  • Micrognathia
  • Strabismus
  • Abnormal facial shape
  • Delayed speech and language development

And another 39 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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6q Terminal Deletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 %
Periventricular nodular heterotopia (NGS panel of 8 genes).

By CGC Genetics (Portugal).

DCHS1, ARFGEF2, ERMARD, FAT4, FLNA, FMR1, LRP2, NEDD4L
Specificity
13 %
Genes
100 %
Periventricular nodular heterotopia (NGS panel of 8 genes).

By CGC Genetics (Portugal).

DCHS1, ARFGEF2, ERMARD, FAT4, FLNA, FMR1, LRP2, NEDD4L
Specificity
13 %
Genes
100 %
C6orf70.

By Amplexa Genetics Amplexa Genetics A/S (Denmark).

ERMARD
Specificity
100 %
Genes
100 %
Brain malformations.

By Asper Biogene Asper Biogene LLC (Estonia).

STIL, SLC12A6, SNAP29, TCF4, CEP41, TUBB2A, TUBG1, VLDLR, VRK1, ACTB, RXYLT1, RAB18, ACTG1, SLC25A19, TMEM237, ZEB2, CASK, TSEN34, B4GAT1, CCND2 , (...)

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

By Fulgent Genetics Fulgent Genetics (United States).

ERMARD
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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