← 返回搜尋

Microphthalmia with linear skin defects syndrome

ORPHA:2556 · Malformation syndrome · Disorder

HPO 表現型（共 77 項）

Very frequent (99-80%)(11)

  • Abnormal skin pigmentationHP:0001000
  • AnophthalmiaHP:0000528
  • Aplasia/Hypoplasia of the skinHP:0008065
  • Congenital diaphragmatic herniaHP:0000776
  • Corneal opacityHP:0007957
  • Dermal atrophyHP:0004334
  • ErythemaHP:0010783
  • Hyperpigmentation of the skinHP:0000953
  • MicrophthalmiaHP:0000568
  • Midface retrusionHP:0011800
  • SclerocorneaHP:0000647

Frequent (79-30%)(19)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal eyelash morphologyHP:0000499
  • Abnormal eyelid morphologyHP:0000492
  • Abnormal facial shapeHP:0001999
  • Abnormal nasolacrimal system morphologyHP:0000614
  • Abnormal retinal pigmentationHP:0007703
  • Abnormal vitreous humor morphologyHP:0004327
  • Abnormality of the earHP:0000598
  • ArrhythmiaHP:0011675
  • Dilated cardiomyopathyHP:0001644
  • Hypertrophic cardiomyopathyHP:0001639
  • Hypopigmented skin patchesHP:0001053
  • Mandibular aplasiaHP:0009939
  • MicrognathiaHP:0000347
  • RetrognathiaHP:0000278
  • Severe short statureHP:0003510
  • VitritisHP:0011531
  • Wide nasal bridgeHP:0000431
  • Wide noseHP:0000445

Occasional (29-5%)(47)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal earlobe morphologyHP:0000363
  • Abnormal fallopian tube morphologyHP:0011027
  • Abnormal nail morphologyHP:0001597
  • Abnormal penis morphologyHP:0000036
  • Abnormal rectum morphologyHP:0002034
  • Abnormal testis morphologyHP:0000035
  • Abnormality of the anusHP:0004378
  • Absent septum pellucidumHP:0001331
  • Agenesis of corpus callosumHP:0001274
  • Ambiguous genitaliaHP:0000062
  • AmblyopiaHP:0000646
  • AphasiaHP:0002381
  • BlindnessHP:0000618
  • Chorioretinal dysplasiaHP:0007731
  • Cleft earlobeHP:0011265
  • Clitoral hypertrophyHP:0008665
  • DyspneaHP:0002094
  • EcholaliaHP:0010529
  • EpispadiasHP:0000039
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Functional motor deficitHP:0004302
  • GlaucomaHP:0000501
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Hearing impairmentHP:0000365
  • HydrocephalusHP:0000238
  • HypospadiasHP:0000047
  • Intellectual disabilityHP:0001249
  • Male pseudohermaphroditismHP:0000037
  • MicrocephalyHP:0000252
  • Mitral regurgitationHP:0001653
  • Mitral valve prolapseHP:0001634
  • MutismHP:0002300
  • Posterior embryotoxonHP:0000627
  • Respiratory distressHP:0002098
  • Respiratory failureHP:0002878
  • Retinal dysplasiaHP:0007973
  • Retinal dystrophyHP:0000556
  • Sacral dimpleHP:0000960
  • SeizureHP:0001250
  • Specific learning disabilityHP:0001328
  • Status epilepticusHP:0002133
  • Tricuspid regurgitationHP:0005180
  • Tricuspid valve prolapseHP:0001704
  • Visual lossHP:0000572