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Ichthyosis follicularis-alopecia-photophobia syndrome

ORPHA:2273 · Disease · Disorder

HPO 表現型（共 78 項）

Very frequent (99-80%)(9)

  • Abnormal hair morphologyHP:0001595
  • AlopeciaHP:0001596
  • IchthyosisHP:0008064
  • Intellectual disabilityHP:0001249
  • PapuleHP:0200034
  • PhotophobiaHP:0000613
  • SeizureHP:0001250
  • Sparse hairHP:0008070
  • Specific learning disabilityHP:0001328

Frequent (79-30%)(25)

  • Abnormal eyelash morphologyHP:0000499
  • Abnormal nail morphologyHP:0001597
  • Abnormal nasolacrimal system morphologyHP:0000614
  • Abnormality of temperature regulationHP:0004370
  • Absent eyebrowHP:0002223
  • Corneal erosionHP:0200020
  • DementiaHP:0000726
  • Developmental regressionHP:0002376
  • Eczematoid dermatitisHP:0000964
  • ErythemaHP:0010783
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Growth delayHP:0001510
  • Heat intoleranceHP:0002046
  • Hyperconvex fingernailsHP:0001812
  • HyperkeratosisHP:0000962
  • HypohidrosisHP:0000966
  • Hypoplastic fingernailHP:0001804
  • ImmunodeficiencyHP:0002721
  • Mental deteriorationHP:0001268
  • Recurrent bacterial infectionsHP:0002718
  • Recurrent infectionsHP:0002719
  • Recurrent respiratory infectionsHP:0002205
  • Thin eyebrowHP:0045074
  • Thin fingernailHP:0012742

Occasional (29-5%)(44)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal eyelid morphologyHP:0000492
  • Abnormal pelvis bone morphologyHP:0040163
  • Abnormal vertebral morphologyHP:0003468
  • Abnormality of the handHP:0001155
  • Abnormality of the kidneyHP:0000077
  • Abnormality of the upper urinary tractHP:0010935
  • Abnormality of the vertebral columnHP:0000925
  • Absent septum pellucidumHP:0001331
  • Aganglionic megacolonHP:0002251
  • Agenesis of corpus callosumHP:0001274
  • AstigmatismHP:0000483
  • BlepharitisHP:0000498
  • Camptodactyly of fingerHP:0100490
  • Cerebellar hypoplasiaHP:0001321
  • Cerebral cortical atrophyHP:0002120
  • Cerebral cortical hemiatrophyHP:0100308
  • CheilitisHP:0100825
  • Choanal atresiaHP:0000453
  • ConjunctivitisHP:0000509
  • Corneal opacityHP:0007957
  • CryptorchidismHP:0000028
  • Delayed skeletal maturationHP:0002750
  • EctrodactylyHP:0100257
  • EpiscleritisHP:0100534
  • Frontal bossingHP:0002007
  • HydronephrosisHP:0000126
  • HydroureterHP:0000072
  • HypotoniaHP:0001252
  • Inguinal herniaHP:0000023
  • KeratitisHP:0000491
  • KyphosisHP:0002808
  • MacrotiaHP:0000400
  • MicrocephalyHP:0000252
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • OligodactylyHP:0012165
  • OmphaloceleHP:0001539
  • PlatyspondylyHP:0000926
  • ScleritisHP:0100532
  • Severe short statureHP:0003510
  • Subcortical cerebral atrophyHP:0012157
  • UrticariaHP:0001025
  • UveitisHP:0000554