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Intellectual disability-facial dysmorphism-hand anomalies syndrome

ORPHA:370010 · Malformation syndrome · Disorder

HPO 表現型（共 34 項）

Frequent (79-30%)(7)

  • Broad chinHP:0011822
  • Broad nasal tipHP:0000455
  • Delayed speech and language developmentHP:0000750
  • Moderate intellectual disabilityHP:0002342
  • Short palpebral fissureHP:0012745
  • Specific learning disabilityHP:0001328
  • Thin upper lip vermilionHP:0000219

Occasional (29-5%)(27)

  • 3-4 finger cutaneous syndactylyHP:0011939
  • Abnormal scalp morphologyHP:0001965
  • Bifid distal phalanx of the thumbHP:0009611
  • BrachydactylyHP:0001156
  • Broad thumbHP:0011304
  • Cervical C2/C3 vertebral fusionHP:0004602
  • Curved distal phalanx of the thumbHP:0009644
  • Facial grimacingHP:0000273
  • Gait disturbanceHP:0001288
  • Hypoplastic thumbnailHP:0012553
  • Hypoplastic toenailsHP:0001800
  • MicrocephalyHP:0000252
  • Moderate hearing impairmentHP:0012713
  • Osseous finger syndactylyHP:0010492
  • OverweightHP:0025502
  • Poor speechHP:0002465
  • Recurrent otitis mediaHP:0000403
  • Short 3rd metacarpalHP:0010041
  • Short 5th metacarpalHP:0010047
  • Short distal phalanx of fingerHP:0009882
  • Short distal phalanx of the thumbHP:0009650
  • Short statureHP:0004322
  • Short thumbHP:0009778
  • Short toeHP:0001831
  • Single transverse palmar creaseHP:0000954
  • Triangular shaped distal phalanx of the thumbHP:0009648
  • Upper limb muscle weaknessHP:0003484