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MYT1L-related developmental delay-intellectual disability-obesity syndrome

ORPHA:647799 · Disease · Disorder

HPO 表現型（共 66 項）

Very frequent (99-80%)(5)

  • Autistic behaviorHP:0000729
  • Delayed fine motor developmentHP:0010862
  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(19)

  • Abnormal eating behaviorHP:0100738
  • Abnormality of coordinationHP:0011443
  • Aggressive behaviorHP:0000718
  • Almond-shaped palpebral fissureHP:0007874
  • Attention deficit hyperactivity disorderHP:0007018
  • Bulbous noseHP:0000414
  • Deeply set eyeHP:0000490
  • Exaggerated cupid's bowHP:0002263
  • FatigueHP:0012378
  • Floppy infantHP:0008947
  • Full cheeksHP:0000293
  • ImpulsivityHP:0100710
  • Moderate intellectual disabilityHP:0002342
  • Motor delayHP:0001270
  • Motor stereotypyHP:0000733
  • ObesityHP:0001513
  • PolyphagiaHP:0002591
  • Sleep disturbanceHP:0002360
  • Specific learning disabilityHP:0001328

Occasional (29-5%)(29)

  • Abnormal temper tantrumsHP:0025160
  • AnxietyHP:0000739
  • AstigmatismHP:0000483
  • BruxismHP:0003763
  • Congenital muscular torticollisHP:0005988
  • CryptorchidismHP:0000028
  • Decreased fetal movementHP:0001558
  • Failure to thriveHP:0001508
  • Feeding difficulties in infancyHP:0008872
  • Gastroesophageal refluxHP:0002020
  • HypermetropiaHP:0000540
  • Intrauterine growth retardationHP:0001511
  • Maternal diabetesHP:0009800
  • Maternal hypertensionHP:0008071
  • MicrocephalyHP:0000252
  • Mild intellectual disabilityHP:0001256
  • Neonatal hypoglycemiaHP:0001998
  • Neonatal hypotoniaHP:0001319
  • OverweightHP:0025502
  • PolyembolokoilamaniaHP:0032508
  • Premature birthHP:0001622
  • Reduced eye contactHP:0000817
  • Respiratory distressHP:0002098
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • TachyphagiaHP:6000352
  • VentriculomegalyHP:0002119

Very rare (<4-1%)(13)

  • Abnormal pituitary stalk morphologyHP:0034977
  • Congenital diaphragmatic herniaHP:0000776
  • Hashimoto thyroiditisHP:0000872
  • HyperlipidemiaHP:0003077
  • HypogonadismHP:0000135
  • MacrocephalyHP:0000256
  • MicropenisHP:0000054
  • Mild fetal ventriculomegalyHP:0010952
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • Oculomotor apraxiaHP:0000657
  • Renal cystHP:0000107
  • Sleep apneaHP:0010535