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2p15p16.1 microdeletion syndrome

ORPHA:261349 · Malformation syndrome · Disorder

HPO 表現型（共 77 項）

Very frequent (99-80%)(18)

  • BlepharophimosisHP:0000581
  • Delayed speech and language developmentHP:0000750
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Everted lower lip vermilionHP:0000232
  • Global developmental delayHP:0001263
  • High palateHP:0000218
  • Long philtrumHP:0000343
  • MicrocephalyHP:0000252
  • Moderate intellectual disabilityHP:0002342
  • Narrow mouthHP:0000160
  • Optic atrophyHP:0000648
  • Optic nerve hypoplasiaHP:0000609
  • Prominent nasal bridgeHP:0000426
  • PtosisHP:0000508
  • Smooth philtrumHP:0000319
  • TelecanthusHP:0000506
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(25)

  • Attention deficit hyperactivity disorderHP:0007018
  • AutismHP:0000717
  • Autistic behaviorHP:0000729
  • BrachycephalyHP:0000248
  • Camptodactyly of fingerHP:0100490
  • Failure to thriveHP:0001508
  • Generalized hypotoniaHP:0001290
  • Growth delayHP:0001510
  • HydronephrosisHP:0000126
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • Long eyelashesHP:0000527
  • Low-set earsHP:0000369
  • Lower limb spasticityHP:0002061
  • Metatarsus adductusHP:0001840
  • Narrow foreheadHP:0000341
  • Prominent nasal tipHP:0005274
  • Protruding earHP:0000411
  • Recurrent respiratory infectionsHP:0002205
  • RetrognathiaHP:0000278
  • Sloping foreheadHP:0000340
  • StrabismusHP:0000486
  • Tapered fingerHP:0001182
  • Visual impairmentHP:0000505
  • Wide intermamillary distanceHP:0006610

Occasional (29-5%)(34)

  • Aortic regurgitationHP:0001659
  • Bilateral single transverse palmar creasesHP:0007598
  • Cerebellar hypoplasiaHP:0001321
  • Decreased testicular sizeHP:0008734
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • EEG abnormalityHP:0002353
  • Enlarged thoraxHP:0100625
  • Facial palsyHP:0010628
  • Feeding difficultiesHP:0011968
  • Fine hairHP:0002213
  • Gait disturbanceHP:0001288
  • GynecomastiaHP:0000771
  • Hearing impairmentHP:0000365
  • High foreheadHP:0000348
  • Hypernasal speechHP:0001611
  • HypogonadismHP:0000135
  • Inguinal herniaHP:0000023
  • KyphosisHP:0002808
  • LaryngomalaciaHP:0001601
  • Mitral regurgitationHP:0001653
  • Multicystic kidney dysplasiaHP:0000003
  • Patellar dislocationHP:0002999
  • Pectus excavatumHP:0000767
  • Pes planusHP:0001763
  • PolyhydramniosHP:0001561
  • Prominent metopic ridgeHP:0005487
  • Sandal gapHP:0001852
  • ScoliosisHP:0002650
  • Sparse eyebrowHP:0045075
  • Supernumerary nippleHP:0002558
  • Tall statureHP:0000098
  • Toe clinodactylyHP:0001863
  • VentriculomegalyHP:0002119