6q16 Deletion Syndrome

Description

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

Clinical Features

Top most frequent phenotypes and symptoms related to 6q16 Deletion Syndrome

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Muscular hypotonia
  • Low-set ears
  • High palate
  • Delayed speech and language development

And another 22 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

6q16 Deletion Syndrome Is also known as del(6)(q16), prader-willi-like syndrome due to deletion 6q16, monosomy 6q16.

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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6q16 Deletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Monogenic Obesity Sequencing Panel.

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

SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Monogenic Obesity Deletion/Duplication Panel.

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

SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
SIM1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SIM1
Specificity
100 %
Genes
100 %
Obesity (sequence analysis of SIM1 gene).

By CGC Genetics (Portugal).

SIM1
Specificity
100 %
Genes
100 %
Non-Syndromic Monogenic Obesity Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SIM1, UCP3, KSR2, SH2B1, LEP, LEPR, MC4R, NR0B2, NTRK2, PCSK1, POMC
Specificity
10 %
Genes
100 %
Monogenic Obesity via SIM1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SIM1
Specificity
100 %
Genes
100 %
Comprehensive Monogenic Obesity Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BDNF, SDCCAG8, SIM1, TUB, UCP3, KDM6A, ARL6, RAB23, TRIM32, PHF6, KSR2, IFT27, BBS7, TTC8, MRAP2, IFT74, VPS13B, CPE, CUL4B, BBS10 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Obesity, severe, susceptibility to,.

By Praxis fuer Humangenetik Wien (Austria).

SIM1
Specificity
100 %
Genes
100 %

We have 9 more panels available in our App

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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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