← 返回搜尋

Microphthalmia, Lenz type

ORPHA:568 · Malformation syndrome · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(1)

  • MicrophthalmiaHP:0000568

Frequent (79-30%)(22)

  • Abnormal dental morphologyHP:0006482
  • Abnormal pinna morphologyHP:0000377
  • Abnormality of the dentitionHP:0000164
  • Camptodactyly of fingerHP:0100490
  • Chorioretinal colobomaHP:0000567
  • Clinodactyly of the 5th fingerHP:0004209
  • Complete duplication of thumb phalanxHP:0009943
  • CryptorchidismHP:0000028
  • Finger syndactylyHP:0006101
  • GlaucomaHP:0000501
  • HydronephrosisHP:0000126
  • HydroureterHP:0000072
  • HypospadiasHP:0000047
  • Intellectual disabilityHP:0001249
  • Iris colobomaHP:0000612
  • MicrocephalyHP:0000252
  • MicrocorneaHP:0000482
  • Optic disc colobomaHP:0000588
  • Orofacial cleftHP:0000202
  • Posteriorly rotated earsHP:0000358
  • Renal hypoplasia/aplasiaHP:0008678
  • Short statureHP:0004322

Occasional (29-5%)(19)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal clavicle morphologyHP:0000889
  • Abnormal shoulder morphologyHP:0003043
  • Abnormal speech patternHP:0002167
  • AnkyloblepharonHP:0009755
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • CataractHP:0000518
  • Delayed eruption of teethHP:0000684
  • Hearing impairmentHP:0000365
  • HyperlordosisHP:0003307
  • KyphosisHP:0002808
  • Long thoraxHP:0100818
  • NystagmusHP:0000639
  • Preauricular skin tagHP:0000384
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Self-injurious behaviorHP:0100716
  • Visual impairmentHP:0000505
  • Webbed neckHP:0000465