← 返回搜尋

Distal deletion 10q syndrome

ORPHA:96148 · Malformation syndrome · Disorder

HPO 表現型（共 92 項）

Very frequent (99-80%)(5)

  • Abnormal facial shapeHP:0001999
  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Specific learning disabilityHP:0001328

Frequent (79-30%)(14)

  • Abnormality of the outer earHP:0000356
  • Atypical behaviorHP:0000708
  • ClinodactylyHP:0030084
  • Enlarged cisterna magnaHP:0002280
  • EnuresisHP:0000805
  • Failure to thriveHP:0001508
  • Floppy infantHP:0008947
  • Lower limb hyperreflexiaHP:0002395
  • Poor speechHP:0002465
  • Postnatal growth retardationHP:0008897
  • Recurrent infectionsHP:0002719
  • StrabismusHP:0000486
  • Thin upper lip vermilionHP:0000219
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(45)

  • 2-3 toe cutaneous syndactylyHP:0005709
  • Abnormality of the genitourinary systemHP:0000119
  • Aggressive behaviorHP:0000718
  • AstigmatismHP:0000483
  • Atrial septal defectHP:0001631
  • Attention deficit hyperactivity disorderHP:0007018
  • BrachydactylyHP:0001156
  • Cavum septum pellucidumHP:0002389
  • Cerebellar hypoplasiaHP:0001321
  • Cleft palateHP:0000175
  • Clinodactyly of the 5th fingerHP:0004209
  • ClonusHP:0002169
  • Congenital sensorineural hearing impairmentHP:0008527
  • EpicanthusHP:0000286
  • Facial asymmetryHP:0000324
  • Facial diplegiaHP:0001349
  • Feeding difficultiesHP:0011968
  • High palateHP:0000218
  • Horseshoe kidneyHP:0000085
  • Inferior cerebellar vermis hypoplasiaHP:0007068
  • Lateral ventricle dilatationHP:0006956
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • MyopiaHP:0000545
  • Oculomotor apraxiaHP:0000657
  • Patent ductus arteriosusHP:0001643
  • Pes planusHP:0001763
  • Pes valgusHP:0008081
  • Poor fine motor coordinationHP:0007010
  • Premature birthHP:0001622
  • Prominent nasal bridgeHP:0000426
  • Prominent noseHP:0000448
  • Sandal gapHP:0001852
  • SeizureHP:0001250
  • Short metatarsalHP:0010743
  • Short statureHP:0004322
  • Single transverse palmar creaseHP:0000954
  • Sleep disturbanceHP:0002360
  • Smooth philtrumHP:0000319
  • SpasticityHP:0001257
  • Tapered fingerHP:0001182
  • Unsteady gaitHP:0002317
  • Upslanted palpebral fissureHP:0000582
  • Vesicoureteral refluxHP:0000076

Very rare (<4-1%)(28)

  • Abnormal morphology of the vestibule of the inner earHP:0011376
  • Acute kidney injuryHP:0001919
  • Anal atresiaHP:0002023
  • AnxietyHP:0000739
  • AtaxiaHP:0001251
  • BrachycephalyHP:0000248
  • Broad foreheadHP:0000337
  • Cochlear malformationHP:0008554
  • CraniosynostosisHP:0001363
  • Downslanted palpebral fissuresHP:0000494
  • Frontal bossingHP:0002007
  • Functional abnormality of the bladderHP:0000009
  • Hip dislocationHP:0002827
  • Hip dysplasiaHP:0001385
  • Hypoplastic toenailsHP:0001800
  • HypotelorismHP:0000601
  • Lumbar hyperlordosisHP:0002938
  • Narrow foreheadHP:0000341
  • Pectus excavatumHP:0000767
  • Prominent fingertip padsHP:0001212
  • Prominent metopic ridgeHP:0005487
  • ProptosisHP:0000520
  • Protruding earHP:0000411
  • Scapular wingingHP:0003691
  • Short noseHP:0003196
  • Spina bifida occultaHP:0003298
  • Triangular faceHP:0000325
  • Widow's peakHP:0000349