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MEHMO syndrome

ORPHA:85282 · Malformation syndrome · Disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(14)

  • CryptorchidismHP:0000028
  • EEG abnormalityHP:0002353
  • External genital hypoplasiaHP:0003241
  • Growth delayHP:0001510
  • Hypoplasia of penisHP:0008736
  • Large earlobeHP:0009748
  • MicrocephalyHP:0000252
  • MicropenisHP:0000054
  • ObesityHP:0001513
  • Round faceHP:0000311
  • Severe global developmental delayHP:0011344
  • Severe intellectual disabilityHP:0010864
  • Sloping foreheadHP:0000340
  • Thick vermilion borderHP:0012471

Frequent (79-30%)(10)

  • AgitationHP:0000713
  • Downturned corners of mouthHP:0002714
  • Full cheeksHP:0000293
  • HyperreflexiaHP:0001347
  • HypertoniaHP:0001276
  • HypotoniaHP:0001252
  • NystagmusHP:0000639
  • SeizureHP:0001250
  • Talipes equinovarusHP:0001762
  • Tapered fingerHP:0001182

Occasional (29-5%)(1)

  • Diabetes mellitusHP:0000819