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COG5-CDG

ORPHA:263487 · Disease · Disorder

HPO 表現型（共 46 項）

Very frequent (99-80%)(3)

  • Delayed speech and language developmentHP:0000750
  • Floppy infantHP:0008947
  • Motor delayHP:0001270

Frequent (79-30%)(6)

  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • Posteriorly rotated earsHP:0000358
  • Prominent noseHP:0000448
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322

Occasional (29-5%)(37)

  • Abnormal isoelectric focusing of serum transferrinHP:0003160
  • Abnormality of the frontal hairlineHP:0000599
  • Atrophy/Degeneration affecting the brainstemHP:0007366
  • Autistic behaviorHP:0000729
  • Brain atrophyHP:0012444
  • Brisk reflexesHP:0001348
  • Camptodactyly of fingerHP:0100490
  • Cerebellar atrophyHP:0001272
  • Cerebral visual impairmentHP:0100704
  • Cerebral white matter atrophyHP:0012762
  • CryptorchidismHP:0000028
  • Delayed myelinationHP:0012448
  • Diffuse cerebral atrophyHP:0002506
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Finger clinodactylyHP:0040019
  • Gastrostomy tube feeding in infancyHP:0011471
  • Genu valgumHP:0002857
  • HepatomegalyHP:0002240
  • HepatosplenomegalyHP:0001433
  • High palateHP:0000218
  • Intrauterine growth retardationHP:0001511
  • Joint contracture of the handHP:0009473
  • Lateral ventricle dilatationHP:0006956
  • MicropenisHP:0000054
  • Mild intellectual disabilityHP:0001256
  • Moderate intellectual disabilityHP:0002342
  • Neurogenic bladderHP:0000011
  • OligohydramniosHP:0001562
  • Premature skin wrinklingHP:0100678
  • RetrognathiaHP:0000278
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Short neckHP:0000470
  • StrabismusHP:0000486
  • Truncal ataxiaHP:0002078
  • Urinary incontinenceHP:0000020
  • Wide nasal bridgeHP:0000431