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
  • Epicanthus
  • High palate
And another 22 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.


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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 in United States.

ARL6, MKKS, CEP290, TTC8, TRIM32, UCP3, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LEP, LEPR, PCSK1, POMC , (...)

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

By Genetic Services Laboratory University of Chicago in United States.

ARL6, MKKS, CEP290, TTC8, TRIM32, UCP3, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LEP, LEPR, PCSK1, POMC , (...)

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

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

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

By CGC Genetics in Portugal.

SIM1
Specificity
100 %
Genes
100 %
Obesity, severe, susceptibility to,.

By Praxis fuer Humangenetik Wien in Austria.

SIM1
Specificity
100 %
Genes
100 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
100 %
Obesity, severe, susceptibility to,.

By MedGene in Slovakia.

SIM1
Specificity
100 %
Genes
100 %
Congenital Obesity: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ARL6, MKKS, CEP290, TTC8, TRIM32, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LEP, LEPR, PCSK1, POMC, MC4R , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Diabetes-Obesity NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HNF1A, NEUROD1, HNF1B, WFS1, ARL6, MKKS, CEP290, TTC8, TRIM32, GCK, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
SIM1.

By Fulgent Genetics Fulgent Genetics in United States.

SIM1
Specificity
100 %
Genes
100 %
Monogenic Obesity Panel.

By Blueprint Genetics in Finland.

PPARG, ARL6, MKKS, CEP290, TTC8, TRIM32, UCP3, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LEP, LEPR, PCSK1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Obesity, mild, early-onset.

By Bioarray in Spain.

SIM1
Specificity
100 %
Genes
100 %
Severe Obesity (Susceptibility to) , Sequencing SIM1 Gene.

By Reference Laboratory Genetics in Spain.

SIM1
Specificity
100 %
Genes
100 %
Severe Obesity (Susceptibility to) , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

PPARG, UCP1, UCP3, PPARGC1B, LEP, LEPR, POMC, MC4R, SIM1, NR0B2, ENPP1, CARTPT, MC3R, ADRB2, ADRB3, AGRP, GHRL, SDC3
Specificity
6 %
Genes
100 %

Alternate names

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



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