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1q41q42 microdeletion syndrome

ORPHA:250999 · Malformation syndrome · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(9)

  • Abnormality of the faceHP:0000271
  • Frontal bossingHP:0002007
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Intellectual disabilityHP:0001249
  • Neonatal hypotoniaHP:0001319
  • SeizureHP:0001250
  • Severe global developmental delayHP:0011344
  • Short statureHP:0004322

Frequent (79-30%)(10)

  • Atypical behaviorHP:0000708
  • Broad nasal tipHP:0000455
  • Deeply set eyeHP:0000490
  • Depressed nasal bridgeHP:0005280
  • Morphological central nervous system abnormalityHP:0002011
  • Small nailHP:0001792
  • Talipes equinovarusHP:0001762
  • Thick vermilion borderHP:0012471
  • Underdeveloped nasal alaeHP:0000430
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(13)

  • Abnormality iris morphologyHP:0000525
  • Abnormality of the genital systemHP:0000078
  • Cleft palateHP:0000175
  • Coarse facial featuresHP:0000280
  • Congenital diaphragmatic herniaHP:0000776
  • CryptorchidismHP:0000028
  • HoloprosencephalyHP:0001360
  • Hypergonadotropic hypogonadismHP:0000815
  • Hyposegmentation of neutrophil nucleiHP:0011447
  • HypotelorismHP:0000601
  • Pulmonary hypoplasiaHP:0002089
  • StrabismusHP:0000486
  • Submucous cleft hard palateHP:0000176