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Noonan syndrome-like disorder with loose anagen hair

ORPHA:2701 · Malformation syndrome · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(7)

  • Delayed skeletal maturationHP:0002750
  • Low posterior hairlineHP:0002162
  • Posteriorly rotated earsHP:0000358
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Sparse scalp hairHP:0002209
  • Webbed neckHP:0000465

Frequent (79-30%)(9)

  • Anteverted naresHP:0000463
  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • Deep philtrumHP:0002002
  • EpicanthusHP:0000286
  • HydrocephalusHP:0000238
  • Hypertrophic cardiomyopathyHP:0001639
  • MacrotiaHP:0000400
  • Pectus excavatumHP:0000767
  • Pulmonic stenosisHP:0001642

Occasional (29-5%)(13)

  • Abnormal fingernail morphologyHP:0001231
  • Abnormal intervertebral disk morphologyHP:0005108
  • Abnormal palate morphologyHP:0000174
  • Abnormality of the elbowHP:0009811
  • BrachydactylyHP:0001156
  • Carious teethHP:0000670
  • CryptorchidismHP:0000028
  • Hearing impairmentHP:0000365
  • HypertelorismHP:0000316
  • Hypoplastic toenailsHP:0001800
  • Intellectual disabilityHP:0001249
  • Thick lower lip vermilionHP:0000179
  • Thin vermilion borderHP:0000233