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Osteopenia-intellectual disability-sparse hair syndrome

ORPHA:2324 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Frequent (79-30%)(12)

  • Delayed gross motor developmentHP:0002194
  • Delayed speech and language developmentHP:0000750
  • Fine hairHP:0002213
  • Frontal bossingHP:0002007
  • Generalized hypotoniaHP:0001290
  • HypertelorismHP:0000316
  • Joint hypermobilityHP:0001382
  • OsteopeniaHP:0000938
  • Postnatal growth retardationHP:0008897
  • Recurrent fracturesHP:0002757
  • Relative macrocephalyHP:0004482
  • Sparse scalp hairHP:0002209

Occasional (29-5%)(10)

  • 2-3 toe syndactylyHP:0004691
  • Blue scleraeHP:0000592
  • Bulbous noseHP:0000414
  • Delayed skeletal maturationHP:0002750
  • High-frequency sensorineural hearing impairmentHP:0001757
  • Low-set earsHP:0000369
  • Mandibular prognathiaHP:0000303
  • Midface retrusionHP:0011800
  • SeizureHP:0001250
  • Single transverse palmar creaseHP:0000954