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Neu-Laxova syndrome

ORPHA:2671 · Malformation syndrome · Disorder

HPO 表現型（共 62 項）

Very frequent (99-80%)(7)

  • Abnormal nervous system morphologyHP:0012639
  • IchthyosisHP:0008064
  • Intrauterine growth retardationHP:0001511
  • Lack of skin elasticityHP:0100679
  • MicrocephalyHP:0000252
  • Sloping foreheadHP:0000340
  • Thick vermilion borderHP:0012471

Frequent (79-30%)(31)

  • Abnormal cerebellar vermis morphologyHP:0002334
  • Abnormal cortical gyrationHP:0002536
  • Abnormality of neuronal migrationHP:0002269
  • Abnormality of the mouthHP:0000153
  • Abnormality of the philtrumHP:0000288
  • Abnormality of the skinHP:0000951
  • Absent septum pellucidumHP:0001331
  • Ambiguous genitaliaHP:0000062
  • Aplasia/Hypoplasia involving the skeletal musculatureHP:0001460
  • Broad footHP:0001769
  • Cerebellar hypoplasiaHP:0001321
  • Dandy-Walker malformationHP:0001305
  • Decreased fetal movementHP:0001558
  • Depressed nasal ridgeHP:0000457
  • Everted lower lip vermilionHP:0000232
  • External genital hypoplasiaHP:0003241
  • Flexion contractureHP:0001371
  • HypertelorismHP:0000316
  • HypogonadismHP:0000135
  • Large handsHP:0001176
  • LissencephalyHP:0001339
  • MacrotiaHP:0000400
  • Muscle spasmHP:0003394
  • Muscular dystrophyHP:0003560
  • OpisthotonusHP:0002179
  • PachygyriaHP:0001302
  • PolyhydramniosHP:0001561
  • PolymicrogyriaHP:0002126
  • ProptosisHP:0000520
  • Skeletal muscle atrophyHP:0003202
  • TrismusHP:0000211

Occasional (29-5%)(24)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal eyelash morphologyHP:0000499
  • Abnormal eyelid morphologyHP:0000492
  • Abnormal hair morphologyHP:0001595
  • Abnormal nasolacrimal system morphologyHP:0000614
  • Arthrogryposis multiplex congenitaHP:0002804
  • Bifid uvulaHP:0000193
  • CataractHP:0000518
  • Cerebral calcificationHP:0002514
  • Cleft palateHP:0000175
  • MicrognathiaHP:0000347
  • MicromeliaHP:0002983
  • OsteomalaciaHP:0002749
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Prominent occiputHP:0000269
  • PterygiumHP:0001059
  • Pulmonary hypoplasiaHP:0002089
  • RetrognathiaHP:0000278
  • RicketsHP:0002748
  • ScoliosisHP:0002650
  • Spina bifidaHP:0002414
  • Submucous cleft hard palateHP:0000176
  • VentriculomegalyHP:0002119