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Ablepharon macrostomia syndrome

ORPHA:920 · Malformation syndrome · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(11)

  • AblepharonHP:0011224
  • Absent eyebrowHP:0002223
  • Absent eyelashesHP:0000561
  • Delayed speech and language developmentHP:0000750
  • Fine hairHP:0002213
  • Hypoplasia of the zygomatic boneHP:0010669
  • MicrotiaHP:0008551
  • Redundant skinHP:0001582
  • Sparse hairHP:0008070
  • Underdeveloped nasal alaeHP:0000430
  • Wide mouthHP:0000154

Frequent (79-30%)(19)

  • Abnormal female external genitalia morphologyHP:0000055
  • Ambiguous genitaliaHP:0000062
  • Anteverted naresHP:0000463
  • Aplasia/Hypoplasia of the nipplesHP:0006709
  • Breast hypoplasiaHP:0003187
  • Camptodactyly of fingerHP:0100490
  • Corneal opacityHP:0007957
  • CryptophthalmosHP:0001126
  • Dry skinHP:0000958
  • Excessive wrinkled skinHP:0007392
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • Hypoplasia of penisHP:0008736
  • Hypoplasia of the maxillaHP:0000327
  • MicrodontiaHP:0000691
  • MyopiaHP:0000545
  • Thin skinHP:0000963
  • Umbilical herniaHP:0001537
  • Visual impairmentHP:0000505

Occasional (29-5%)(9)

  • Abnormal hair patternHP:0010720
  • Abnormal skin pigmentationHP:0001000
  • Atresia of the external auditory canalHP:0000413
  • Corneal erosionHP:0200020
  • Depressed nasal bridgeHP:0005280
  • Growth delayHP:0001510
  • OmphaloceleHP:0001539
  • Thin vermilion borderHP:0000233
  • Toe syndactylyHP:0001770