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Malan overgrowth syndrome

ORPHA:420179 · Malformation syndrome · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(1)

  • Accelerated skeletal maturationHP:0005616

Frequent (79-30%)(16)

  • Downslanted palpebral fissuresHP:0000494
  • Feeding difficulties in infancyHP:0008872
  • High foreheadHP:0000348
  • Hypoplasia of the corpus callosumHP:0002079
  • Low posterior hairlineHP:0002162
  • MacrocephalyHP:0000256
  • Moderate intellectual disabilityHP:0002342
  • Narrow faceHP:0000275
  • Neonatal hypotoniaHP:0001319
  • Oval faceHP:0000300
  • Pectus excavatumHP:0000767
  • Prominent foreheadHP:0011220
  • Slender long boneHP:0003100
  • StrabismusHP:0000486
  • Tall statureHP:0000098
  • VentriculomegalyHP:0002119

Occasional (29-5%)(21)

  • AnxietyHP:0000739
  • Deeply set eyeHP:0000490
  • Depressed nasal bridgeHP:0005280
  • Episodic ataxiaHP:0002131
  • Facial asymmetryHP:0000324
  • Frontal bossingHP:0002007
  • High palateHP:0000218
  • Hypoplasia of the brainstemHP:0002365
  • Lateral ventricle dilatationHP:0006956
  • MigraineHP:0002076
  • Mild intellectual disabilityHP:0001256
  • Narrow mouthHP:0000160
  • NystagmusHP:0000639
  • Optic disc hypoplasiaHP:0007766
  • Optic disc pallorHP:0000543
  • PlagiocephalyHP:0001357
  • Pointed chinHP:0000307
  • ScaphocephalyHP:0030799
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864