← 返回搜尋

Prominent glabella-microcephaly-hypogenitalism syndrome

ORPHA:2083 · Malformation syndrome · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(22)

  • Abnormal hair patternHP:0010720
  • Cognitive impairmentHP:0100543
  • CryptorchidismHP:0000028
  • DolichocephalyHP:0000268
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Highly arched eyebrowHP:0002553
  • HypertoniaHP:0001276
  • Hypoplasia of penisHP:0008736
  • Intrauterine growth retardationHP:0001511
  • MacrotiaHP:0000400
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Overfolded helixHP:0000396
  • Posteriorly rotated earsHP:0000358
  • Prominent glabellaHP:0002057
  • Prominent nasal bridgeHP:0000426
  • SeizureHP:0001250
  • Short noseHP:0003196
  • Short palpebral fissureHP:0012745
  • Small scrotumHP:0000046
  • Wide intermamillary distanceHP:0006610

Frequent (79-30%)(9)

  • Abnormality of the voiceHP:0001608
  • Bilateral single transverse palmar creasesHP:0007598
  • BrachydactylyHP:0001156
  • Camptodactyly of fingerHP:0100490
  • HydronephrosisHP:0000126
  • Short neckHP:0000470
  • Thickened nuchal skin foldHP:0000474
  • Underdeveloped nasal alaeHP:0000430
  • VentriculomegalyHP:0002119