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TELO2-related intellectual disability-neurodevelopmental disorder

ORPHA:488642 · Malformation syndrome · Disorder

HPO 表現型（共 52 項）

Very frequent (99-80%)(5)

  • Abnormal facial shapeHP:0001999
  • Gait imbalanceHP:0002141
  • Primary microcephalyHP:0011451
  • Severe global developmental delayHP:0011344
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(15)

  • 4-5 toe syndactylyHP:0004692
  • Abnormal morphology of the great vesselsHP:0030962
  • Abnormality of movementHP:0100022
  • Absent speechHP:0001344
  • BrachydactylyHP:0001156
  • Cerebral visual impairmentHP:0100704
  • ClinodactylyHP:0030084
  • Feeding difficultiesHP:0011968
  • Floppy infantHP:0008947
  • Hearing impairmentHP:0000365
  • Inability to walkHP:0002540
  • Poor speechHP:0002465
  • SeizureHP:0001250
  • Short statureHP:0004322
  • SpasticityHP:0001257

Occasional (29-5%)(32)

  • AnkyloglossiaHP:0010296
  • Annular pancreasHP:0001734
  • AtaxiaHP:0001251
  • Bilateral conductive hearing impairmentHP:0008513
  • Bilateral single transverse palmar creasesHP:0007598
  • Blue scleraeHP:0000592
  • Cleft palateHP:0000175
  • Clinodactyly of the 5th fingerHP:0004209
  • Congenital bilateral hip dislocationHP:0008780
  • Developmental cataractHP:0000519
  • Downturned corners of mouthHP:0002714
  • Duplicated collecting systemHP:0000081
  • EsodeviationHP:0020045
  • Hip contractureHP:0003273
  • HypertelorismHP:0000316
  • HypertoniaHP:0001276
  • Hypoplastic toenailsHP:0001800
  • Intrauterine growth retardationHP:0001511
  • Joint hypermobilityHP:0001382
  • Knee flexion contractureHP:0006380
  • KyphoscoliosisHP:0002751
  • MicroretrognathiaHP:0000308
  • Overlapping toeHP:0001845
  • Pectus carinatumHP:0000768
  • Rocker bottom footHP:0001838
  • Rod-cone dystrophyHP:0000510
  • Rotary nystagmusHP:0001583
  • Short footHP:0001773
  • Sleep-wake cycle disturbanceHP:0006979
  • Small handHP:0200055
  • Tapered fingerHP:0001182
  • Upslanted palpebral fissureHP:0000582