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CTCF-related neurodevelopmental disorder

ORPHA:363611 · Disease · Disorder

HPO 表現型（共 71 項）

Frequent (79-30%)(28)

  • Abnormal facial shapeHP:0001999
  • Abnormality of the dentitionHP:0000164
  • Atrial septal defectHP:0001631
  • Atypical behaviorHP:0000708
  • Autistic behaviorHP:0000729
  • Broad hallux phalanxHP:0010059
  • Clinodactyly of the 5th fingerHP:0004209
  • CryptorchidismHP:0000028
  • Delayed speech and language developmentHP:0000750
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • HypermetropiaHP:0000540
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Long eyelashesHP:0000527
  • Macrodontia of permanent maxillary central incisorHP:0000675
  • MicrocephalyHP:0000252
  • Neurodevelopmental delayHP:0012758
  • Patent ductus arteriosusHP:0001643
  • Recurrent infectionsHP:0002719
  • Sandal gapHP:0001852
  • Single transverse palmar creaseHP:0000954
  • Small for gestational ageHP:0001518
  • StrabismusHP:0000486
  • Thick eyebrowHP:0000574
  • Thin upper lip vermilionHP:0000219
  • Thin vermilion borderHP:0000233
  • VentriculomegalyHP:0002119

Occasional (29-5%)(43)

  • 2-3 toe syndactylyHP:0004691
  • Abnormal temper tantrumsHP:0025160
  • Anteverted naresHP:0000463
  • Broad nasal tipHP:0000455
  • Chronic lung diseaseHP:0006528
  • Cleft palateHP:0000175
  • Coarctation of aortaHP:0001680
  • CraniosynostosisHP:0001363
  • Cupped earHP:0000378
  • Deeply set eyeHP:0000490
  • EpicanthusHP:0000286
  • Fetal distressHP:0025116
  • Gastroesophageal refluxHP:0002020
  • High foreheadHP:0000348
  • Highly arched eyebrowHP:0002553
  • HypertelorismHP:0000316
  • HypertrichosisHP:0000998
  • Hypoplastic labia majoraHP:0000059
  • Inguinal herniaHP:0000023
  • Joint contracture of the 5th fingerHP:0009183
  • Long philtrumHP:0000343
  • MicrocorneaHP:0000482
  • MicrodontiaHP:0000691
  • Midface retrusionHP:0011800
  • Mitral regurgitationHP:0001653
  • Narrow foreheadHP:0000341
  • Narrow mouthHP:0000160
  • Nasogastric tube feeding in infancyHP:0011470
  • OsteopeniaHP:0000938
  • PhimosisHP:0001741
  • Posteriorly rotated earsHP:0000358
  • Prolonged neonatal jaundiceHP:0006579
  • Prominent fingertip padsHP:0001212
  • Pulmonary arterial hypertensionHP:0002092
  • Pulmonary hemorrhageHP:0040223
  • Recurrent lower respiratory tract infectionsHP:0002783
  • Sacral dimpleHP:0000960
  • SepsisHP:0100806
  • Short columellaHP:0002000
  • Short noseHP:0003196
  • Short philtrumHP:0000322
  • Sleep disturbanceHP:0002360
  • SynophrysHP:0000664