White-sutton Syndrome; Whsus

Description

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

Clinical Features

Top most frequent phenotypes and symptoms related to White-sutton Syndrome; Whsus

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
And another 49 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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White-sutton Syndrome; Whsus Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AutismNext.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, MECP2, SLC9A6, SLC6A8, CDKL5, CHD7, CREBBP, DHCR7, FOXG1, MEF2C, PCDH19, RAI1, HDAC8, TSC2, RAD21, SYNGAP1, SMC3, SMC1A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
CustomNext: Neuro.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
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 %
White-Sutton Syndrome via POGZ Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POGZ
Specificity
100 %
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 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Mental retardation, autosomal dominant type 37.

By Centogene AG - the Rare Disease Company in Germany.

POGZ
Specificity
100 %
Genes
100 %
POGZ.

By Fulgent Genetics Fulgent Genetics in United States.

POGZ
Specificity
100 %
Genes
100 %
Autism Spectrum Disorders Panel.

By Blueprint Genetics in Finland.

PTEN, MECP2, GAMT, DHCR7, TSC2, TSC1, NSD1, SHANK3, PTCHD1, ADNP, FOXP1, CACNA1C, NLGN4X, NLGN3, RPL10, CC2D1A, POGZ, BCL11A, TRIP12, CTNND2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes.

By Reference Laboratory Genetics in Spain.

MECP2, STXBP1, TUSC3, ACSL4, SLC6A8, ARX, MEF2C, SYNGAP1, KIF1A, DYNC1H1, GRIN2B, MBD5, DEAF1, PQBP1, TBL1XR1, ST3GAL3, KANSL1, NRXN1, GRIN1, DYRK1A , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics in Spain.

MEF2C, SYNGAP1, KIF1A, DYNC1H1, GRIN2B, MBD5, DEAF1, TBL1XR1, KANSL1, GRIN1, DYRK1A, SETBP1, ADNP, KIRREL3, EHMT1, ARID1B, CTNNB1, SMARCA4, SMARCB1, ARID1A , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %

Alternate names

White-sutton Syndrome; Whsus Is also known as mental retardation, autosomal dominant 37;mrd37;.



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