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DYRK1A-related intellectual disability syndrome

ORPHA:464306 · Malformation syndrome · Disorder

HPO 表現型（共 73 項）

Very frequent (99-80%)(8)

  • Abnormal facial shapeHP:0001999
  • AcromesomeliaHP:0003086
  • Delayed speech and language developmentHP:0000750
  • Feeding difficultiesHP:0011968
  • Gait disturbanceHP:0001288
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252

Frequent (79-30%)(13)

  • AnxietyHP:0000739
  • Atypical behaviorHP:0000708
  • Autistic behaviorHP:0000729
  • Failure to thriveHP:0001508
  • Febrile seizure (within the age range of 3 months to 6 years)HP:0002373
  • Intrauterine growth retardationHP:0001511
  • Motor stereotypyHP:0000733
  • Poor speechHP:0002465
  • Primary microcephalyHP:0011451
  • SeizureHP:0001250
  • Small for gestational ageHP:0001518
  • VentriculomegalyHP:0002119
  • Visual impairmentHP:0000505

Occasional (29-5%)(30)

  • AmblyopiaHP:0000646
  • Anterior pituitary hypoplasiaHP:0010627
  • Aortic regurgitationHP:0001659
  • ArachnodactylyHP:0001166
  • AstigmatismHP:0000483
  • Cerebral cortical atrophyHP:0002120
  • Clinodactyly of the 5th fingerHP:0004209
  • Corneal opacityHP:0007957
  • CryptorchidismHP:0000028
  • Deeply set eyeHP:0000490
  • ExotropiaHP:0000577
  • Gastroesophageal refluxHP:0002020
  • HyperactivityHP:0000752
  • HypermetropiaHP:0000540
  • Hypoplasia of the brainstemHP:0002365
  • Hypoplasia of the corpus callosumHP:0002079
  • MacrotiaHP:0000400
  • Multiple joint contracturesHP:0002828
  • MyopiaHP:0000545
  • Narrow foreheadHP:0000341
  • Narrow nasal tipHP:0011832
  • Optic disc pallorHP:0000543
  • PolydactylyHP:0010442
  • Prominent nasal bridgeHP:0000426
  • Protruding earHP:0000411
  • Recurrent infectionsHP:0002719
  • Severe intellectual disabilityHP:0010864
  • StrabismusHP:0000486
  • Toe syndactylyHP:0001770
  • VomitingHP:0002013

Very rare (<4-1%)(22)

  • Abnormality of the cervical spineHP:0003319
  • Aortic valve stenosisHP:0001650
  • Breast hypoplasiaHP:0003187
  • Duodenal atresiaHP:0002247
  • Eczematoid dermatitisHP:0000964
  • Enlarged cisterna magnaHP:0002280
  • Hallux valgusHP:0001822
  • HydronephrosisHP:0000126
  • HypospadiasHP:0000047
  • KyphosisHP:0002808
  • MicropenisHP:0000054
  • OligohydramniosHP:0001562
  • Patent ductus arteriosusHP:0001643
  • Pectus excavatumHP:0000767
  • Pelvic kidneyHP:0000125
  • Pyloric stenosisHP:0002021
  • Renal cystHP:0000107
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Structural foot deformityHP:0010219
  • Unilateral renal agenesisHP:0000122
  • Ventricular septal defectHP:0001629