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X-linked cerebral-cerebellar-coloboma syndrome

ORPHA:163961 · Disease · Disorder

HPO 表現型（共 31 項）

Frequent (79-30%)(15)

  • Abnormal brainstem morphologyHP:0002363
  • Abnormal cerebral cortex morphologyHP:0002538
  • Apneic episodes in infancyHP:0005949
  • Cerebellar vermis hypoplasiaHP:0001320
  • Chorioretinal colobomaHP:0000567
  • Episodic tachypneaHP:0002876
  • Feeding difficultiesHP:0011968
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • HydrocephalusHP:0000238
  • Intellectual disabilityHP:0001249
  • Low-set earsHP:0000369
  • Nasogastric tube feedingHP:0040288
  • SeizureHP:0001250
  • VentriculomegalyHP:0002119

Occasional (29-5%)(16)

  • Agenesis of cerebellar vermisHP:0002335
  • AreflexiaHP:0001284
  • Dandy-Walker malformationHP:0001305
  • DysphagiaHP:0002015
  • Frontal bossingHP:0002007
  • HypertelorismHP:0000316
  • Meckel diverticulumHP:0002245
  • MicrognathiaHP:0000347
  • Poor suckHP:0002033
  • Posteriorly rotated earsHP:0000358
  • RetrognathiaHP:0000278
  • Short noseHP:0003196
  • Supernumerary ribsHP:0005815
  • Thick nasal alaeHP:0009928
  • Uncontrolled eye movementsHP:0007738
  • Undetectable visual evoked potentialsHP:0007965