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Cleft palate-large ears-small head syndrome

ORPHA:2013 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(5)

  • Cleft palateHP:0000175
  • Delayed skeletal maturationHP:0002750
  • MacrotiaHP:0000400
  • MicrocephalyHP:0000252
  • Short statureHP:0004322

Frequent (79-30%)(14)

  • Aplasia/Hypoplasia of the nipplesHP:0006709
  • Elfin faciesHP:0004428
  • Gingival overgrowthHP:0000212
  • Global developmental delayHP:0001263
  • Hypoplastic toenailsHP:0001800
  • HypospadiasHP:0000047
  • HypotoniaHP:0001252
  • MicrognathiaHP:0000347
  • Pectus excavatumHP:0000767
  • Protruding earHP:0000411
  • PtosisHP:0000508
  • Short distal phalanx of fingerHP:0009882
  • Skeletal muscle atrophyHP:0003202
  • Ulnar deviation of fingerHP:0009465