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Ossification anomalies-psychomotor developmental delay syndrome

ORPHA:73230 · Disease · Disorder

HPO 表現型（共 36 項）

Frequent (79-30%)(14)

  • Abnormal bone ossificationHP:0011849
  • Abnormal diaphysis morphologyHP:0000940
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Generalized bone demineralizationHP:0006462
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • HepatomegalyHP:0002240
  • High foreheadHP:0000348
  • HyperostosisHP:0100774
  • HypertelorismHP:0000316
  • Metaphyseal wideningHP:0003016
  • MicrognathiaHP:0000347
  • Narrow chestHP:0000774
  • ProptosisHP:0000520

Occasional (29-5%)(22)

  • Abnormal thorax morphologyHP:0000765
  • Abnormal vertebral body morphologyHP:0003312
  • Absent speechHP:0001344
  • Anteverted naresHP:0000463
  • Clubbing of fingersHP:0100759
  • Decreased muscle massHP:0003199
  • Delayed gross motor developmentHP:0002194
  • DysphagiaHP:0002015
  • Gastroesophageal refluxHP:0002020
  • Hepatic hemangiomaHP:0031207
  • Large fontanellesHP:0000239
  • Penile hypospadiasHP:0003244
  • Postnatal growth retardationHP:0008897
  • Recurrent aspiration pneumoniaHP:0002100
  • Shallow orbitsHP:0000586
  • Short 5th fingerHP:0009237
  • Short distal phalanx of fingerHP:0009882
  • Slender long boneHP:0003100
  • Thin ribsHP:0000883
  • Triangular faceHP:0000325
  • Triangular shaped distal phalanges of the handHP:0009875
  • VentriculomegalyHP:0002119