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Microphthalmia with brain and digit anomalies

ORPHA:139471 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(2)

  • AnophthalmiaHP:0000528
  • MicrophthalmiaHP:0000568

Frequent (79-30%)(5)

  • CataractHP:0000518
  • Chorioretinal colobomaHP:0000567
  • Global developmental delayHP:0001263
  • Iris colobomaHP:0000612
  • MicrocorneaHP:0000482

Occasional (29-5%)(16)

  • Abnormality of the hypothalamus-pituitary axisHP:0000864
  • Agenesis of corpus callosumHP:0001274
  • CryptorchidismHP:0000028
  • Finger syndactylyHP:0006101
  • High palateHP:0000218
  • Inferior cerebellar vermis hypoplasiaHP:0007068
  • MicrocephalyHP:0000252
  • MyopiaHP:0000545
  • Nail dysplasiaHP:0002164
  • NystagmusHP:0000639
  • Postaxial foot polydactylyHP:0001830
  • Proximal placement of thumbHP:0009623
  • Retinal dystrophyHP:0000556
  • SclerocorneaHP:0000647
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407