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Toriello-Carey syndrome

ORPHA:3338 · Malformation syndrome · Disorder

HPO 表現型（共 46 項）

Very frequent (99-80%)(7)

  • Abnormal corpus callosum morphologyHP:0001273
  • Abnormal pinna morphologyHP:0000377
  • Intellectual disabilityHP:0001249
  • MicrognathiaHP:0000347
  • Short noseHP:0003196
  • Short palpebral fissureHP:0012745
  • TelecanthusHP:0000506

Frequent (79-30%)(13)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal palate morphologyHP:0000174
  • Aganglionic megacolonHP:0002251
  • Agenesis of corpus callosumHP:0001274
  • Anteriorly placed anusHP:0001545
  • Cleft palateHP:0000175
  • CryptorchidismHP:0000028
  • Full cheeksHP:0000293
  • Hearing impairmentHP:0000365
  • HypotoniaHP:0001252
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Wide anterior fontanelHP:0000260

Occasional (29-5%)(22)

  • Abnormality of the larynxHP:0001600
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • BrachydactylyHP:0001156
  • CardiomyopathyHP:0001638
  • Cerebral atrophyHP:0002059
  • ClinodactylyHP:0030084
  • Feeding difficulties in infancyHP:0008872
  • High palateHP:0000218
  • Hypoplasia of the corpus callosumHP:0002079
  • Intrauterine growth retardationHP:0001511
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • Narrow chestHP:0000774
  • Neonatal respiratory distressHP:0002643
  • Partial agenesis of the corpus callosumHP:0001338
  • Patent ductus arteriosusHP:0001643
  • Postnatal growth retardationHP:0008897
  • Pulmonic stenosisHP:0001642
  • SeizureHP:0001250
  • Sparse eyebrowHP:0045075
  • Thickened helicesHP:0000391
  • VentriculomegalyHP:0002119

Very rare (<4-1%)(4)

  • AnotiaHP:0009892
  • Coarctation of aortaHP:0001680
  • Dandy-Walker malformationHP:0001305
  • Tetralogy of FallotHP:0001636