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Ring chromosome 13 syndrome

ORPHA:96176 · Malformation syndrome · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(4)

  • Abnormal facial shapeHP:0001999
  • Growth delayHP:0001510
  • MicrocephalyHP:0000252
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(12)

  • Ambiguous genitaliaHP:0000062
  • Anteverted naresHP:0000463
  • Aplasia/hypoplasia involving bones of the handHP:0005927
  • Bifid scrotumHP:0000048
  • Depressed nasal bridgeHP:0005280
  • HypertelorismHP:0000316
  • HypospadiasHP:0000047
  • MacrotiaHP:0000400
  • MicropenisHP:0000054
  • Primary hypothyroidismHP:0000832
  • Skeletal dysplasiaHP:0002652
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(21)

  • Abnormal renal physiologyHP:0012211
  • Abnormal skin pigmentationHP:0001000
  • Abnormality of the incisorHP:0000676
  • Absent footHP:0011301
  • AlopeciaHP:0001596
  • Anal atresiaHP:0002023
  • AnencephalyHP:0002323
  • Aplasia/Hypoplasia of the thumbHP:0009601
  • AutismHP:0000717
  • Cafe-au-lait spotHP:0000957
  • EpicanthusHP:0000286
  • Frontal bossingHP:0002007
  • Generalized hypotoniaHP:0001290
  • High palateHP:0000218
  • MicrognathiaHP:0000347
  • Partial absence of footHP:0030032
  • Posteriorly rotated earsHP:0000358
  • Short neckHP:0000470
  • Short philtrumHP:0000322
  • TrigonocephalyHP:0000243
  • Urogenital sinus anomalyHP:0100779

Very rare (<4-1%)(5)

  • Abnormal retinal morphologyHP:0000479
  • Abnormality of the coagulation cascadeHP:0003256
  • Agenesis of corpus callosumHP:0001274
  • Hypoplasia of the gallbladderHP:0005233
  • RetinoblastomaHP:0009919