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Hypotonia-speech impairment-severe cognitive delay syndrome

ORPHA:371364 · Disease · Disorder

HPO 表現型（共 55 項）

Very frequent (99-80%)(9)

  • Absent speechHP:0001344
  • Delayed speech and language developmentHP:0000750
  • EsotropiaHP:0000565
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • Motor delayHP:0001270
  • Severe intellectual disabilityHP:0010864
  • StrabismusHP:0000486
  • Tapered distal phalanges of fingerHP:0009884

Frequent (79-30%)(31)

  • Abnormal facial shapeHP:0001999
  • Anteverted naresHP:0000463
  • ArachnodactylyHP:0001166
  • CachexiaHP:0004326
  • ConstipationHP:0002019
  • Downslanted palpebral fissuresHP:0000494
  • DyskinesiaHP:0100660
  • EEG abnormalityHP:0002353
  • Enlarged narisHP:0009931
  • Feeding difficultiesHP:0011968
  • Frontal bossingHP:0002007
  • HyperesthesiaHP:0100963
  • HypotoniaHP:0001252
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Neonatal hypotoniaHP:0001319
  • PlagiocephalyHP:0001357
  • Posteriorly rotated earsHP:0000358
  • Prominent nasal bridgeHP:0000426
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Severe failure to thriveHP:0001525
  • Short philtrumHP:0000322
  • Short statureHP:0004322
  • Small handHP:0200055
  • Smooth philtrumHP:0000319
  • Talipes equinovarusHP:0001762
  • Tented upper lip vermilionHP:0010804
  • Thin upper lip vermilionHP:0000219
  • Triangular faceHP:0000325
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(15)

  • Axial hypotoniaHP:0008936
  • Conspicuously happy dispositionHP:0100024
  • Elbow flexion contractureHP:0002987
  • EMG: myopathic abnormalitiesHP:0003458
  • Hip contractureHP:0003273
  • Hypoplasia of the corpus callosumHP:0002079
  • Intrauterine growth retardationHP:0001511
  • Knee flexion contractureHP:0006380
  • Nasogastric tube feeding in infancyHP:0011470
  • NystagmusHP:0000639
  • Obstructive sleep apneaHP:0002870
  • Self-injurious behaviorHP:0100716
  • Short neckHP:0000470
  • Sleep disturbanceHP:0002360
  • Spastic tetraplegiaHP:0002510