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Trisomy 10p syndrome

ORPHA:171929 · Malformation syndrome · Disorder

HPO 表現型（共 63 項）

Very frequent (99-80%)(4)

  • Growth delayHP:0001510
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • Small for gestational ageHP:0001518

Frequent (79-30%)(14)

  • Abnormal facial shapeHP:0001999
  • Abnormal foot morphologyHP:0001760
  • Abnormal lip morphologyHP:0000159
  • Abnormality of the earHP:0000598
  • Abnormality of the eyeHP:0000478
  • Abnormality of the genitourinary systemHP:0000119
  • Abnormality of the handHP:0001155
  • Abnormality of the noseHP:0000366
  • Abnormality of the skeletal systemHP:0000924
  • DolichocephalyHP:0000268
  • High foreheadHP:0000348
  • HypertelorismHP:0000316
  • Prominent foreheadHP:0011220
  • SeizureHP:0001250

Occasional (29-5%)(45)

  • Abnormal auditory evoked potentialsHP:0006958
  • Abnormal heart morphologyHP:0001627
  • Abnormal hip joint morphologyHP:0001384
  • Abnormality of the kidneyHP:0000077
  • Absent gallbladderHP:0011467
  • Anteverted naresHP:0000463
  • CamptodactylyHP:0012385
  • Dandy-Walker malformationHP:0001305
  • Decreased muscle massHP:0003199
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • DysphagiaHP:0002015
  • EEG with burst suppressionHP:0010851
  • EEG with focal spikesHP:0011193
  • EpicanthusHP:0000286
  • Focal clonic seizureHP:0002266
  • Frontal bossingHP:0002007
  • Gastroesophageal refluxHP:0002020
  • Generalized hypotoniaHP:0001290
  • HemivertebraeHP:0002937
  • High palateHP:0000218
  • Low voltage EEGHP:0011181
  • Low-set earsHP:0000369
  • MacrotiaHP:0000400
  • MicrognathiaHP:0000347
  • Multiple renal cystsHP:0005562
  • Orofacial cleftHP:0000202
  • Periventricular white matter hypodensitiesHP:0012794
  • Poor motor coordinationHP:0002275
  • Poor suckHP:0002033
  • Posteriorly rotated earsHP:0000358
  • Primary microcephalyHP:0011451
  • Rectovaginal fistulaHP:0000143
  • RetrognathiaHP:0000278
  • Severe global developmental delayHP:0011344
  • Short noseHP:0003196
  • Short palpebral fissureHP:0012745
  • Short toeHP:0001831
  • Simplified gyral patternHP:0009879
  • Talipes equinovarusHP:0001762
  • Thin vermilion borderHP:0000233
  • Thumb contractureHP:0009600
  • Ulnar deviated club handsHP:0006055
  • Upslanted palpebral fissureHP:0000582
  • Wide cranial suturesHP:0010537