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MOMO syndrome

ORPHA:2563 · Malformation syndrome · Disorder

HPO 表現型（共 44 項）

Obligate (100%)(1)

  • ObesityHP:0001513

Frequent (79-30%)(38)

  • Abnormal bone ossificationHP:0011849
  • Auditory sensitivityHP:0025112
  • Bilateral microphthalmosHP:0007633
  • BrachycephalyHP:0000248
  • Broad foreheadHP:0000337
  • Chorioretinal colobomaHP:0000567
  • Cutis marmorataHP:0000965
  • Delayed eruption of teethHP:0000684
  • Dental malocclusionHP:0000689
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Eyelid colobomaHP:0000625
  • Femoral bowingHP:0002980
  • Frontal bossingHP:0002007
  • GlaucomaHP:0000501
  • High foreheadHP:0000348
  • High palateHP:0000218
  • Hyperconvex nailHP:0001795
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Large for gestational ageHP:0001520
  • Large handsHP:0001176
  • Long footHP:0001833
  • Long philtrumHP:0000343
  • MacrocephalyHP:0000256
  • NystagmusHP:0000639
  • OvergrowthHP:0001548
  • SeizureHP:0001250
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Short sternumHP:0000879
  • Smooth philtrumHP:0000319
  • StrabismusHP:0000486
  • TaurodontiaHP:0000679
  • Thick lower lip vermilionHP:0000179
  • Thick upper lip vermilionHP:0000215
  • Underfolded helixHP:0008577
  • Wide nasal baseHP:0012810

Occasional (29-5%)(4)

  • AutismHP:0000717
  • BlindnessHP:0000618
  • Congenital pseudoarthrosis of the clavicleHP:0006585
  • Tall statureHP:0000098

Excluded (0%)(1)

  • Abnormality of the thyroid glandHP:0000820