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14q22q23 microdeletion syndrome

ORPHA:264200 · Malformation syndrome · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(19)

  • Abnormality of the hypothalamus-pituitary axisHP:0000864
  • AnophthalmiaHP:0000528
  • Atresia of the external auditory canalHP:0000413
  • CryptorchidismHP:0000028
  • Cupped earHP:0000378
  • Downslanted palpebral fissuresHP:0000494
  • Downturned corners of mouthHP:0002714
  • EpicanthusHP:0000286
  • Global developmental delayHP:0001263
  • High foreheadHP:0000348
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Optic nerve aplasiaHP:0012521
  • Posteriorly rotated earsHP:0000358
  • Preauricular skin tagHP:0000384
  • ProptosisHP:0000520
  • PtosisHP:0000508
  • Short statureHP:0004322
  • Small scrotumHP:0000046

Frequent (79-30%)(8)

  • Agenesis of corpus callosumHP:0001274
  • Anterior pituitary hypoplasiaHP:0010627
  • BrachycephalyHP:0000248
  • Diabetes insipidusHP:0000873
  • Malar flatteningHP:0000272
  • MicrognathiaHP:0000347
  • Underdeveloped nasal alaeHP:0000430
  • VentriculomegalyHP:0002119

Occasional (29-5%)(13)

  • Adrenal hypoplasiaHP:0000835
  • Bilateral single transverse palmar creasesHP:0007598
  • Clinodactyly of the 5th fingerHP:0004209
  • Decreased fetal movementHP:0001558
  • Delayed skeletal maturationHP:0002750
  • Finger syndactylyHP:0006101
  • Hearing impairmentHP:0000365
  • Renal hypoplasiaHP:0000089
  • Short 4th metacarpalHP:0010044
  • Short 5th metacarpalHP:0010047
  • Short footHP:0001773
  • Short palmHP:0004279
  • Toe syndactylyHP:0001770