White-sutton Syndrome; Whsus

Description

White-Sutton syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and a characteristic constellation of dysmorphic facial features. Additional features may include hypotonia, sensorineural hearing impairment, visual defects, joint laxity, and gastrointestinal difficulties, such as poor feeding (summary by White et al., 2016). A significant number of patients have autism or autistic features (summary by Stessman et al., 2016).

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Clinical Features

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

  • Hypoglycemic seizures
  • Facial hypotonia
  • Bilateral sensorineural hearing impairment
  • Abnormality of visual evoked potentials
  • Self-injurious behavior
  • Cortical visual impairment
  • Pointed chin
  • Abnormal electroretinogram
  • Open mouth
  • Astigmatism
View the complete list of symptoms

Incidence and onset information

Not enough data available about incidence and published cases.

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 %
Compare panel coverage
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

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

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
IDNext.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, TIMM8A, MECP2, GAMT, GATM, STXBP1, TUSC3, OTC, PDHA1, MAOA, ACSL4, SLC9A6, ABCD1 , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
White-Sutton Syndrome via the POGZ Gene.

By PreventionGenetics PreventionGenetics in United States.

POGZ
Specificity
100 %
Genes
100 %
Compare panel coverage
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 88 more genes
Specificity
1 %
Genes
100 %
Compare panel coverage
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC2, MCCC1, 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 %
Compare panel coverage
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 %
Compare panel coverage
Mental retardation, autosomal dominant type 37.

By Centogene AG - the Rare Disease Company in Germany.

POGZ
Specificity
100 %
Genes
100 %
Compare panel coverage
POGZ.

By Fulgent Genetics Fulgent Genetics in United States.

POGZ
Specificity
100 %
Genes
100 %
Compare panel coverage

Alternate names

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



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