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Zellweger-like syndrome without peroxisomal anomalies

ORPHA:50812 · Disease · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(15)

  • Anteverted naresHP:0000463
  • Bilateral single transverse palmar creasesHP:0007598
  • EpicanthusHP:0000286
  • Frontal bossingHP:0002007
  • Global developmental delayHP:0001263
  • High foreheadHP:0000348
  • High palateHP:0000218
  • HyporeflexiaHP:0001265
  • HypotoniaHP:0001252
  • Mask-like faciesHP:0000298
  • MicrocephalyHP:0000252
  • Pointed chinHP:0000307
  • Severe intellectual disabilityHP:0010864
  • Upslanted palpebral fissureHP:0000582
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(7)

  • AlopeciaHP:0001596
  • Brittle hairHP:0002299
  • Failure to thriveHP:0001508
  • HepatomegalyHP:0002240
  • Hyperpigmentation of the skinHP:0000953
  • Intrauterine growth retardationHP:0001511
  • Short statureHP:0004322