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7q11.23 microduplication syndrome

ORPHA:96121 · Malformation syndrome · Disorder

HPO 表現型（共 95 項）

Very frequent (99-80%)(1)

  • Delayed speech and language developmentHP:0000750

Frequent (79-30%)(35)

  • Abnormal columella morphologyHP:0009929
  • Abnormal earlobe morphologyHP:0000363
  • Abnormal facial shapeHP:0001999
  • AnxietyHP:0000739
  • Aortic aneurysmHP:0004942
  • BrachycephalyHP:0000248
  • Broad foreheadHP:0000337
  • Broad nasal tipHP:0000455
  • Cerebellar hypoplasiaHP:0001321
  • Chronic constipationHP:0012450
  • Congenital diaphragmatic herniaHP:0000776
  • CraniosynostosisHP:0001363
  • Deeply set eyeHP:0000490
  • Dental malocclusionHP:0000689
  • DiastemaHP:0000699
  • DolichocephalyHP:0000268
  • DysmetriaHP:0001310
  • Generalized hypotoniaHP:0001290
  • High palateHP:0000218
  • HyperactivityHP:0000752
  • Long eyelashesHP:0000527
  • MacrocephalyHP:0000256
  • MicrognathiaHP:0000347
  • Mild intellectual disabilityHP:0001256
  • Moderate intellectual disabilityHP:0002342
  • Morphological central nervous system abnormalityHP:0002011
  • Motor delayHP:0001270
  • Posteriorly rotated earsHP:0000358
  • RetrognathiaHP:0000278
  • Short philtrumHP:0000322
  • Simplified gyral patternHP:0009879
  • Single transverse palmar creaseHP:0000954
  • Thin upper lip vermilionHP:0000219
  • Unsteady gaitHP:0002317
  • VentriculomegalyHP:0002119

Occasional (29-5%)(30)

  • Aggressive behaviorHP:0000718
  • Asymmetric crying faceHP:0011333
  • Autism with high cognitive abilitiesHP:0000753
  • Chronic otitis mediaHP:0000389
  • CryptorchidismHP:0000028
  • Cutis marmorataHP:0000965
  • DroolingHP:0002307
  • EsotropiaHP:0000565
  • Growth delayHP:0001510
  • High foreheadHP:0000348
  • Horizontal eyebrowHP:0011228
  • HypertelorismHP:0000316
  • Impaired visuospatial constructive cognitionHP:0010794
  • Inguinal herniaHP:0000023
  • Joint hypermobilityHP:0001382
  • Large earlobeHP:0009748
  • Motor stereotypyHP:0000733
  • MutismHP:0002300
  • ObesityHP:0001513
  • Overfolded helixHP:0000396
  • Patent ductus arteriosusHP:0001643
  • PolyphagiaHP:0002591
  • Reduced social responsivenessHP:0012760
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • Short lingual frenulumHP:0000200
  • Short statureHP:0004322
  • Sleep disturbanceHP:0002360
  • Sparse anterior scalp hairHP:0004768
  • Thin vermilion borderHP:0000233

Very rare (<4-1%)(29)

  • Abnormal optic disc morphologyHP:0012795
  • Aortic valve stenosisHP:0001650
  • Aplasia/Hypoplasia of the fallopian tubeHP:0008655
  • Aplasia/hypoplasia of the uterusHP:0008684
  • AstigmatismHP:0000483
  • Atrial septal defectHP:0001631
  • Cafe-au-lait spotHP:0000957
  • CollectionismHP:0030212
  • Cubitus valgusHP:0002967
  • EnuresisHP:0000805
  • ExotropiaHP:0000577
  • Hearing impairmentHP:0000365
  • HemivertebraeHP:0002937
  • HydrocephalusHP:0000238
  • HydronephrosisHP:0000126
  • HypospadiasHP:0000047
  • Impaired smooth pursuitHP:0007772
  • Long fingersHP:0100807
  • Narrow palpebral fissureHP:0045025
  • Pectus excavatumHP:0000767
  • Pes planusHP:0001763
  • Round faceHP:0000311
  • Sacral dimpleHP:0000960
  • Self-injurious behaviorHP:0100716
  • Short neckHP:0000470
  • StrabismusHP:0000486
  • TracheomalaciaHP:0002779
  • Unilateral renal agenesisHP:0000122
  • Ventricular septal defectHP:0001629