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German syndrome

ORPHA:2077 · Malformation syndrome · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(21)

  • Abnormal eyebrow morphologyHP:0000534
  • Abnormal speech patternHP:0002167
  • Arthrogryposis multiplex congenitaHP:0002804
  • BrachycephalyHP:0000248
  • Depressed nasal bridgeHP:0005280
  • DolichocephalyHP:0000268
  • DysphagiaHP:0002015
  • Everted lower lip vermilionHP:0000232
  • Global developmental delayHP:0001263
  • High foreheadHP:0000348
  • HypokinesiaHP:0002375
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Limitation of joint mobilityHP:0001376
  • LymphedemaHP:0001004
  • MicrognathiaHP:0000347
  • Midface retrusionHP:0011800
  • Open mouthHP:0000194
  • Short statureHP:0004322
  • StrabismusHP:0000486
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(6)

  • Camptodactyly of fingerHP:0100490
  • Hearing abnormalityHP:0000364
  • High palateHP:0000218
  • Orofacial cleftHP:0000202
  • Short neckHP:0000470
  • SynophrysHP:0000664

Occasional (29-5%)(5)

  • Abnormal cardiac septum morphologyHP:0001671
  • Ambiguous genitaliaHP:0000062
  • CryptorchidismHP:0000028
  • Downslanted palpebral fissuresHP:0000494
  • Tetralogy of FallotHP:0001636