← 返回搜尋

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ORPHA:228390 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(19)

  • AlopeciaHP:0001596
  • Anteverted naresHP:0000463
  • Bifid noseHP:0011803
  • BrachycephalyHP:0000248
  • Broad philtrumHP:0000289
  • Calvarial skull defectHP:0001362
  • Coronal craniosynostosisHP:0004440
  • CryptorchidismHP:0000028
  • Depressed nasal bridgeHP:0005280
  • EncephaloceleHP:0002084
  • HypertelorismHP:0000316
  • HypogonadismHP:0000135
  • Mild intellectual disabilityHP:0001256
  • Moderate intellectual disabilityHP:0002342
  • NystagmusHP:0000639
  • StrabismusHP:0000486
  • TelecanthusHP:0000506
  • Underdeveloped nasal alaeHP:0000430
  • Upslanted palpebral fissureHP:0000582

Frequent (79-30%)(11)

  • Abnormality of the dentitionHP:0000164
  • Agenesis of cerebellar vermisHP:0002335
  • Agenesis of corpus callosumHP:0001274
  • Conical toothHP:0000698
  • Fine hairHP:0002213
  • Frontal bossingHP:0002007
  • Intrauterine growth retardationHP:0001511
  • Low-set earsHP:0000369
  • MicrophthalmiaHP:0000568
  • OligohydramniosHP:0001562
  • Small scrotumHP:0000046