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Proximal 3p25.3 microdeletion syndrome

ORPHA:435638 · Malformation syndrome · Disorder

HPO 表現型（共 51 項）

Very frequent (99-80%)(1)

  • Motor delayHP:0001270

Frequent (79-30%)(9)

  • Abnormality of the outer earHP:0000356
  • Absent speechHP:0001344
  • Deep philtrumHP:0002002
  • Delayed speech and language developmentHP:0000750
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • HypotoniaHP:0001252
  • Motor stereotypyHP:0000733
  • Prominent noseHP:0000448

Occasional (29-5%)(41)

  • 2-3 finger cutaneous syndactylyHP:0001233
  • Abnormal thalamus morphologyHP:0010663
  • AcromesomeliaHP:0003086
  • Anteverted naresHP:0000463
  • AtaxiaHP:0001251
  • Atrial septal defectHP:0001631
  • Attention deficit hyperactivity disorderHP:0007018
  • Autistic behaviorHP:0000729
  • Bilateral tonic-clonic seizureHP:0002069
  • BlepharophimosisHP:0000581
  • BrachycephalyHP:0000248
  • Broad halluxHP:0010055
  • Broad thumbHP:0011304
  • Cerebral white matter atrophyHP:0012762
  • Cleft palateHP:0000175
  • Congenital pseudoarthrosis of the clavicleHP:0006585
  • Coronary artery atherosclerosisHP:0001677
  • Downturned corners of mouthHP:0002714
  • EpicanthusHP:0000286
  • Generalized myoclonic seizureHP:0002123
  • Generalized non-motor (absence) seizureHP:0002121
  • High, narrow palateHP:0002705
  • Knee flexion contractureHP:0006380
  • Mandibular prognathiaHP:0000303
  • MicrognathiaHP:0000347
  • MicrophthalmiaHP:0000568
  • Narrow foreheadHP:0000341
  • Overlapping toeHP:0001845
  • Patent ductus arteriosusHP:0001643
  • Postaxial polydactylyHP:0100259
  • Proximal placement of thumbHP:0009623
  • Pulmonic stenosisHP:0001642
  • Pyloric stenosisHP:0002021
  • Sacral dimpleHP:0000960
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • Short philtrumHP:0000322
  • Skeletal muscle atrophyHP:0003202
  • Tapered fingerHP:0001182
  • Thin upper lip vermilionHP:0000219
  • Ventricular septal defectHP:0001629