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2q37 microdeletion syndrome

ORPHA:1001 · Malformation syndrome · Disorder

HPO 表現型（共 52 項）

Very frequent (99-80%)(5)

  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Midface retrusionHP:0011800
  • Round faceHP:0000311

Frequent (79-30%)(32)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Anteverted naresHP:0000463
  • Atypical behaviorHP:0000708
  • Bilateral single transverse palmar creasesHP:0007598
  • BrachydactylyHP:0001156
  • Broad columellaHP:0010761
  • Clinodactyly of the 5th fingerHP:0004209
  • Deeply set eyeHP:0000490
  • Depressed nasal bridgeHP:0005280
  • Downturned corners of mouthHP:0002714
  • Eczematoid dermatitisHP:0000964
  • Finger syndactylyHP:0006101
  • Frontal bossingHP:0002007
  • Highly arched eyebrowHP:0002553
  • Joint hypermobilityHP:0001382
  • MicrocephalyHP:0000252
  • ObesityHP:0001513
  • SeizureHP:0001250
  • Short footHP:0001773
  • Short metacarpalHP:0010049
  • Short palmHP:0004279
  • Short statureHP:0004322
  • Small handHP:0200055
  • Sparse eyebrowHP:0045075
  • Sparse scalp hairHP:0002209
  • Supernumerary nippleHP:0002558
  • Thin vermilion borderHP:0000233
  • Toe syndactylyHP:0001770
  • Umbilical herniaHP:0001537
  • Underdeveloped nasal alaeHP:0000430
  • Upslanted palpebral fissureHP:0000582
  • Wide intermamillary distanceHP:0006610

Occasional (29-5%)(15)

  • Abnormal aortic morphologyHP:0001679
  • Attention deficit hyperactivity disorderHP:0007018
  • AutismHP:0000717
  • Compulsive behaviorsHP:0000722
  • Conductive hearing impairmentHP:0000405
  • Congenital diaphragmatic herniaHP:0000776
  • LaryngomalaciaHP:0001601
  • MacrocephalyHP:0000256
  • Motor stereotypyHP:0000733
  • Multicystic kidney dysplasiaHP:0000003
  • NephroblastomaHP:0002667
  • Pyloric stenosisHP:0002021
  • Short neckHP:0000470
  • Sleep disturbanceHP:0002360
  • TracheomalaciaHP:0002779