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Short stature-brachydactyly-obesity-global developmental delay syndrome

ORPHA:464288 · Malformation syndrome · Disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(10)

  • Abnormal facial shapeHP:0001999
  • Abnormality of the skeletal systemHP:0000924
  • BrachydactylyHP:0001156
  • Deeply set eyeHP:0000490
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Long philtrumHP:0000343
  • Short fourth metatarsalHP:0004689
  • Thin vermilion borderHP:0000233

Frequent (79-30%)(16)

  • Abnormal brain morphologyHP:0012443
  • Anteverted naresHP:0000463
  • CryptorchidismHP:0000028
  • Depressed nasal ridgeHP:0000457
  • Eczematoid dermatitisHP:0000964
  • Flat faceHP:0012368
  • Gingival overgrowthHP:0000212
  • HypertelorismHP:0000316
  • Mild intellectual disabilityHP:0001256
  • ObesityHP:0001513
  • Prominent foreheadHP:0011220
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • Short neckHP:0000470
  • Specific learning disabilityHP:0001328
  • StrabismusHP:0000486

Occasional (29-5%)(19)

  • Abnormal conus terminalis morphologyHP:0031938
  • Abnormality of the endocrine systemHP:0000818
  • Blue scleraeHP:0000592
  • ColobomaHP:0000589
  • DacryocystitisHP:0000620
  • Feeding difficultiesHP:0011968
  • Hypoplasia of the corpus callosumHP:0002079
  • LaryngomalaciaHP:0001601
  • MicrocephalyHP:0000252
  • Moderate intellectual disabilityHP:0002342
  • Patellar hypoplasiaHP:0003065
  • Preauricular skin tagHP:0000384
  • PseudohypoparathyroidismHP:0000852
  • Renal hypoplasiaHP:0000089
  • RetrognathiaHP:0000278
  • Sensorineural hearing impairmentHP:0000407
  • Sleep apneaHP:0010535
  • Thick corpus callosumHP:0007074
  • Vesicoureteral refluxHP:0000076