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Monosomy 13q34 syndrome

ORPHA:96168 · Malformation syndrome · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(5)

  • Abnormal facial shapeHP:0001999
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Mild intellectual disabilityHP:0001256
  • ObesityHP:0001513

Frequent (79-30%)(8)

  • Abnormality of the coagulation cascadeHP:0003256
  • Broad foreheadHP:0000337
  • Broad nasal tipHP:0000455
  • Downslanted palpebral fissuresHP:0000494
  • HypertelorismHP:0000316
  • MicrocephalyHP:0000252
  • Prominent nasal bridgeHP:0000426
  • Prominent noseHP:0000448

Occasional (29-5%)(16)

  • Abnormal earlobe morphologyHP:0000363
  • Common atriumHP:0011565
  • EpicanthusHP:0000286
  • EpistaxisHP:0000421
  • Fetal pyelectasisHP:0010945
  • HematocheziaHP:0002573
  • Hepatic steatosisHP:0001397
  • Horizontal eyebrowHP:0011228
  • Insulin resistanceHP:0000855
  • MetrorrhagiaHP:0100608
  • MicrognathiaHP:0000347
  • Pes planusHP:0001763
  • Posteriorly rotated earsHP:0000358
  • Prolonged partial thromboplastin timeHP:0003645
  • Prolonged prothrombin timeHP:0008151
  • Pulmonic stenosisHP:0001642

Very rare (<4-1%)(6)

  • Agenesis of corpus callosumHP:0001274
  • HypercalcemiaHP:0003072
  • Keratosis pilarisHP:0032152
  • OsteochondrosisHP:0040188
  • Postaxial foot polydactylyHP:0001830
  • Postaxial hand polydactylyHP:0001162