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White-Sutton syndrome

ORPHA:468678 · Disease · Disorder

HPO 表現型（共 72 項）

Very frequent (99-80%)(2)

  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(17)

  • Abnormal facial shapeHP:0001999
  • Abnormality of the gastrointestinal tractHP:0011024
  • Autistic behaviorHP:0000729
  • Delayed speech and language developmentHP:0000750
  • Feeding difficultiesHP:0011968
  • Feeding difficulties in infancyHP:0008872
  • Floppy infantHP:0008947
  • HyperactivityHP:0000752
  • HypermetropiaHP:0000540
  • HypertelorismHP:0000316
  • MicrocephalyHP:0000252
  • Mild intellectual disabilityHP:0001256
  • ObesityHP:0001513
  • Severe expressive language delayHP:0006863
  • Short statureHP:0004322
  • Sleep disturbanceHP:0002360
  • Visual impairmentHP:0000505

Occasional (29-5%)(20)

  • Abnormality of the outer earHP:0000356
  • Absent speechHP:0001344
  • Aggressive behaviorHP:0000718
  • AstigmatismHP:0000483
  • BrachycephalyHP:0000248
  • Chronic constipationHP:0012450
  • EEG abnormalityHP:0002353
  • Gastroesophageal refluxHP:0002020
  • Midface retrusionHP:0011800
  • Motor stereotypyHP:0000733
  • MyopiaHP:0000545
  • Narrow mouthHP:0000160
  • Open mouthHP:0000194
  • Pointed chinHP:0000307
  • Rod-cone dystrophyHP:0000510
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Severe intellectual disabilityHP:0010864
  • StrabismusHP:0000486
  • Thin upper lip vermilionHP:0000219

Very rare (<4-1%)(33)

  • Abnormal heart morphologyHP:0001627
  • BlindnessHP:0000618
  • Broad nasal tipHP:0000455
  • Cerebellar atrophyHP:0001272
  • Cerebral cortical atrophyHP:0002120
  • Compulsive behaviorsHP:0000722
  • Congenital diaphragmatic herniaHP:0000776
  • Delayed CNS myelinationHP:0002188
  • Delayed myelinationHP:0012448
  • Depressed nasal bridgeHP:0005280
  • Downturned corners of mouthHP:0002714
  • Duplicated collecting systemHP:0000081
  • Enlarged cisterna magnaHP:0002280
  • Facial hypotoniaHP:0000297
  • Febrile seizure (within the age range of 3 months to 6 years)HP:0002373
  • Focal impaired awareness seizureHP:0002384
  • High palateHP:0000218
  • Hypoplasia of the corpus callosumHP:0002079
  • Hypoplasia of the ponsHP:0012110
  • IncoordinationHP:0002311
  • Inguinal herniaHP:0000023
  • Iris colobomaHP:0000612
  • Joint hypermobilityHP:0001382
  • Malar flatteningHP:0000272
  • Obstructive sleep apneaHP:0002870
  • Optic atrophyHP:0000648
  • Posteriorly rotated earsHP:0000358
  • Self-injurious behaviorHP:0100716
  • Short neckHP:0000470
  • Short philtrumHP:0000322
  • Subcortical cerebral atrophyHP:0012157
  • Ventral herniaHP:0002933
  • VitiligoHP:0001045