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Birk-Barel syndrome

ORPHA:166108 · Disease · Disorder

HPO 表現型（共 33 項）

Frequent (79-30%)(26)

  • Broad nasal tipHP:0000455
  • Broad philtrumHP:0000289
  • DolichocephalyHP:0000268
  • DysphagiaHP:0002015
  • DysphoniaHP:0001618
  • Fatigable weakness of skeletal musclesHP:0030197
  • Fatiguable weakness of proximal limb musclesHP:0030200
  • Feeding difficultiesHP:0011968
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • High, narrow palateHP:0002705
  • Highly arched eyebrowHP:0002553
  • HyperactivityHP:0000752
  • Hypomimic faceHP:0000338
  • Incisor macrodontiaHP:0011081
  • MicrognathiaHP:0000347
  • Narrow foreheadHP:0000341
  • Narrow nasal bridgeHP:0000446
  • Nasogastric tube feedingHP:0040288
  • Neonatal hypotoniaHP:0001319
  • Open mouthHP:0000194
  • Protruding earHP:0000411
  • Sacral dimpleHP:0000960
  • Short philtrumHP:0000322
  • Tented upper lip vermilionHP:0010804
  • Thick vermilion borderHP:0012471

Occasional (29-5%)(7)

  • AreflexiaHP:0001284
  • Congenital finger flexion contracturesHP:0005879
  • Foot joint contractureHP:0008366
  • Limited elbow flexion/extensionHP:0005060
  • Motor axonal neuropathyHP:0007002
  • Spinal muscular atrophyHP:0007269
  • Tongue fasciculationsHP:0001308