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Gómez-López-Hernández syndrome

ORPHA:1532 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(15)

  • Abnormal brainstem morphologyHP:0002363
  • Abnormal cerebellum morphologyHP:0001317
  • Alopecia of scalpHP:0002293
  • AtaxiaHP:0001251
  • BrachycephalyHP:0000248
  • Cerebellar vermis hypoplasiaHP:0001320
  • Cognitive impairmentHP:0100543
  • Corneal opacityHP:0007957
  • HydrocephalusHP:0000238
  • Impaired pain sensationHP:0007328
  • Low-set earsHP:0000369
  • Midface retrusionHP:0011800
  • Moderate intellectual disabilityHP:0002342
  • Short statureHP:0004322
  • TurricephalyHP:0000262

Frequent (79-30%)(7)

  • Anteverted naresHP:0000463
  • HypertelorismHP:0000316
  • Mask-like faciesHP:0000298
  • TelecanthusHP:0000506
  • Thin vermilion borderHP:0000233
  • Toenail dysplasiaHP:0100797
  • Visual impairmentHP:0000505