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4q21 microdeletion syndrome

ORPHA:238750 · Malformation syndrome · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(6)

  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • HypotoniaHP:0001252
  • Severe global developmental delayHP:0011344
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(12)

  • Broad foreheadHP:0000337
  • Depressed nasal bridgeHP:0005280
  • Frontal bossingHP:0002007
  • Full cheeksHP:0000293
  • HypertelorismHP:0000316
  • Low-set earsHP:0000369
  • MicromeliaHP:0002983
  • Short footHP:0001773
  • Short neckHP:0000470
  • Short palmHP:0004279
  • Short philtrumHP:0000322
  • Small handHP:0200055

Occasional (29-5%)(24)

  • Abnormality of the dentitionHP:0000164
  • Agenesis of corpus callosumHP:0001274
  • AutismHP:0000717
  • Cerebellar hypoplasiaHP:0001321
  • Downturned corners of mouthHP:0002714
  • Generalized hirsutismHP:0002230
  • Hearing impairmentHP:0000365
  • High foreheadHP:0000348
  • Intrauterine growth retardationHP:0001511
  • KyphosisHP:0002808
  • Large fontanellesHP:0000239
  • Long eyelashesHP:0000527
  • Motor stereotypyHP:0000733
  • PtosisHP:0000508
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Self-injurious behaviorHP:0100716
  • Sleep disturbanceHP:0002360
  • StrabismusHP:0000486
  • SynophrysHP:0000664
  • Thin vermilion borderHP:0000233
  • Toe syndactylyHP:0001770
  • TremorHP:0001337
  • VentriculomegalyHP:0002119