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).

Incidence and onset information

Not enough data available about incidence and published cases.

White-sutton Syndrome; Whsus Common symptoms

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

  • Hypoglycemic seizures
  • Abnormality of the outer ear
  • Bilateral sensorineural hearing impairment
  • Abnormality of visual evoked potentials
  • Abnormal electroretinogram
  • Generalized hypotonia
  • Iris coloboma
  • Behavioral abnormality
  • Cerebral atrophy
  • Hypoplasia of the corpus callosum
And 3 less frequent phethotypes (you can get a complete list using our application).

Genes related to White-sutton Syndrome; Whsus

  • POGZ

White-sutton Syndrome; Whsus Recommended genes panels

Panel Name & Genes Tested specificity Genes covered
AutismNext

RAB39B, GRIA3, SLC9A6, FOXG1, CHD8, NLGN4X, MEF2C, CACNA1C, SYNGAP1, ADNP, CNTNAP2, SHANK3, CREBBP, CDKL5, GRIN2B, SMC3, SMC1A, CHD7, FMR1, MECP2 , (...)

View the complete list with 28 more genes

More info about this panel
3 % 100 %
Neurodevelopment-Expanded

ALDH7A1, TSC2, PTEN, TSC1, SLC2A1, MECP2, KCNT1, GRIN2B, ARX, FLNA, DNM1, IQSEC2, PNKP, RAB39B, GRIA3, SLC9A6, FOXG1, CHD8, NLGN4X, CACNA1C , (...)

View the complete list with 176 more genes

More info about this panel
1 % 100 %
IDNext

OCRL, SMARCB1, AP1S2, DHCR7, ARX, CACNA1A, OFD1, CUL4B, CHD7, DYNC1H1, DNM1, FOXP2, FGD1, GRIN1, GATM, GNAO1, HNRNPU, HDAC8, MEF2C, PORCN , (...)

View the complete list with 120 more genes

More info about this panel
1 % 100 %
AllNeuro panel

ADSL, JRK, CAV3, VDAC1, AMPD2, ARSI, TTN, NEDD4L, TFG, DHTKD1, MAG, MTHFR, ABHD5, ACTG1, ALG12, ALG6, ACY1, ADK, AGXT, IDUA , (...)

View the complete list with 1185 more genes

More info about this panel
1 % 100 %
Mental retardation, autosomal dominant type 37

POGZ

More info about this panel
100 % 100 %
POGZ

POGZ

More info about this panel
100 % 100 %

Alternate names

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

Sources

ORPHANET OMIM

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BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT