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Desmosterolosis

ORPHA:35107 · Disease · Disorder

HPO 表現型（共 56 項）

Very frequent (99-80%)(18)

  • Absent septum pellucidumHP:0001331
  • Agenesis of corpus callosumHP:0001274
  • Bifid uvulaHP:0000193
  • Cleft palateHP:0000175
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Growth delayHP:0001510
  • HypertoniaHP:0001276
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Muscle stiffnessHP:0003552
  • RetrognathiaHP:0000278
  • RigidityHP:0002063
  • Severe short statureHP:0003510
  • SpasticityHP:0001257
  • Submucous cleft hard palateHP:0000176

Frequent (79-30%)(13)

  • Abnormal earlobe morphologyHP:0000363
  • Abnormality of the noseHP:0000366
  • Depressed nasal bridgeHP:0005280
  • Large earlobeHP:0009748
  • Low-set earsHP:0000369
  • Narrow mouthHP:0000160
  • NystagmusHP:0000639
  • Posteriorly rotated earsHP:0000358
  • SeizureHP:0001250
  • Short noseHP:0003196
  • Status epilepticusHP:0002133
  • StrabismusHP:0000486
  • VentriculomegalyHP:0002119

Occasional (29-5%)(25)

  • Abnormal cortical gyrationHP:0002536
  • Abnormality of neuronal migrationHP:0002269
  • Ambiguous genitaliaHP:0000062
  • Anomalous pulmonary venous returnHP:0010772
  • Aplasia/Hypoplasia of the skinHP:0008065
  • Dermal atrophyHP:0004334
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Frontal bossingHP:0002007
  • HydrocephalusHP:0000238
  • Increased bone mineral densityHP:0011001
  • Intestinal malrotationHP:0002566
  • LissencephalyHP:0001339
  • MacrocephalyHP:0000256
  • Metatarsus adductusHP:0001840
  • MicromeliaHP:0002983
  • OsteopetrosisHP:0011002
  • PachygyriaHP:0001302
  • Patent ductus arteriosusHP:0001643
  • PolymicrogyriaHP:0002126
  • Prominent foreheadHP:0011220
  • Renal agenesisHP:0000104
  • Renal hypoplasia/aplasiaHP:0008678
  • SplenomegalyHP:0001744
  • TalipesHP:0001883