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X-linked intellectual disability, Snyder type

ORPHA:3063 · Disease · Disorder

HPO 表現型（共 66 項）

Very frequent (99-80%)(1)

  • KyphoscoliosisHP:0002751

Frequent (79-30%)(15)

  • ArachnodactylyHP:0001166
  • Cleft palateHP:0000175
  • Decreased muscle massHP:0003199
  • Disproportionate tall statureHP:0001519
  • Facial asymmetryHP:0000324
  • Floppy infantHP:0008947
  • Hypernasal speechHP:0001611
  • KyphosisHP:0002808
  • Long faceHP:0000276
  • Long toeHP:0010511
  • Narrow faceHP:0000275
  • OsteoporosisHP:0000939
  • Slender toeHP:0011308
  • Thick lower lip vermilionHP:0000179
  • Unsteady gaitHP:0002317

Occasional (29-5%)(31)

  • Abnormal facial shapeHP:0001999
  • Absent speechHP:0001344
  • Anteverted naresHP:0000463
  • Asymmetry of the earsHP:0010722
  • Bulbous noseHP:0000414
  • CryptorchidismHP:0000028
  • Delayed speech and language developmentHP:0000750
  • Dental crowdingHP:0000678
  • Difficulty standingHP:0003698
  • EEG abnormalityHP:0002353
  • Focal motor seizureHP:0011153
  • Generalized myoclonic seizureHP:0002123
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • HypospadiasHP:0000047
  • Inability to walkHP:0002540
  • Involuntary movementsHP:0004305
  • Low-set earsHP:0000369
  • Mild intellectual disabilityHP:0001256
  • MyoclonusHP:0001336
  • Narrow mouthHP:0000160
  • Patchy hypo- and hyperpigmentationHP:0007509
  • Prominent nasal bridgeHP:0000426
  • Recurrent fracturesHP:0002757
  • Smooth philtrumHP:0000319
  • Sparse eyebrowHP:0045075
  • SynophrysHP:0000664
  • Testicular atrophyHP:0000029
  • Unilateral ptosisHP:0007687
  • Upslanted palpebral fissureHP:0000582
  • Webbed neckHP:0000465

Very rare (<4-1%)(19)

  • Abnormality of the Leydig cellsHP:0010789
  • BrachycephalyHP:0000248
  • CamptodactylyHP:0012385
  • Cerebral edemaHP:0002181
  • Cupped earHP:0000378
  • Ectopic kidneyHP:0000086
  • Everted lower lip vermilionHP:0000232
  • High myopiaHP:0011003
  • Mandibular prognathiaHP:0000303
  • MegalencephalyHP:0001355
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • Profound intellectual disabilityHP:0002187
  • ProptosisHP:0000520
  • Short philtrumHP:0000322
  • Short statureHP:0004322
  • Small earlobeHP:0000385
  • Thickened helicesHP:0000391
  • Wide intermamillary distanceHP:0006610