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Megalocornea-intellectual disability syndrome

ORPHA:2479 · Malformation syndrome · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(8)

  • Abnormal speech patternHP:0002167
  • Abnormality of immune system physiologyHP:0010978
  • Frontal bossingHP:0002007
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • MegalocorneaHP:0000485
  • MicrognathiaHP:0000347

Frequent (79-30%)(19)

  • Abnormal anterior chamber morphologyHP:0000593
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Genu varumHP:0002970
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Hypoplasia of the irisHP:0007676
  • IridodonesisHP:0100693
  • Joint hypermobilityHP:0001382
  • KyphosisHP:0002808
  • Metatarsus valgusHP:0010508
  • Motor stereotypyHP:0000733
  • MyopiaHP:0000545
  • Open mouthHP:0000194
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Tapered fingerHP:0001182
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(14)

  • AstigmatismHP:0000483
  • AtaxiaHP:0001251
  • EEG abnormalityHP:0002353
  • Everted lower lip vermilionHP:0000232
  • HypercholesterolemiaHP:0003124
  • HypothyroidismHP:0000821
  • MacrocephalyHP:0000256
  • MicrocephalyHP:0000252
  • NystagmusHP:0000639
  • OsteopeniaHP:0000938
  • Protruding earHP:0000411
  • Sensorineural hearing impairmentHP:0000407
  • Short philtrumHP:0000322
  • Underdeveloped supraorbital ridgesHP:0009891