← 返回搜尋

Hao-Fountain syndrome due to 16p13.2 microdeletion

ORPHA:500055 · Etiological subtype · Subtype of disorder

HPO 表現型（共 53 項）

Very frequent (99-80%)(4)

  • Abnormal facial shapeHP:0001999
  • Brain imaging abnormalityHP:0410263
  • Delayed speech and language developmentHP:0000750
  • Global developmental delayHP:0001263

Frequent (79-30%)(19)

  • Aggressive behaviorHP:0000718
  • AsthmaHP:0002099
  • Attention deficit hyperactivity disorderHP:0007018
  • Autistic behaviorHP:0000729
  • Cerebral white matter atrophyHP:0012762
  • Chronic constipationHP:0012450
  • Dilated third ventricleHP:0007082
  • EsotropiaHP:0000565
  • Failure to thriveHP:0001508
  • Feeding difficulties in infancyHP:0008872
  • Gait disturbanceHP:0001288
  • Gastroesophageal refluxHP:0002020
  • HypogonadismHP:0000135
  • Hypoplasia of the corpus callosumHP:0002079
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Neonatal hypotoniaHP:0001319
  • SeizureHP:0001250
  • Short statureHP:0004322

Occasional (29-5%)(30)

  • Abnormal temper tantrumsHP:0025160
  • Absent speechHP:0001344
  • BrachycephalyHP:0000248
  • Chronic diarrheaHP:0002028
  • CryptorchidismHP:0000028
  • Decreased fetal movementHP:0001558
  • Flexion contractureHP:0001371
  • Hearing impairmentHP:0000365
  • Hip dysplasiaHP:0001385
  • HydrocephalusHP:0000238
  • ImpulsivityHP:0100710
  • KyphosisHP:0002808
  • MicrocephalyHP:0000252
  • MicropenisHP:0000054
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • Obsessive-compulsive traitHP:0008770
  • OverweightHP:0025502
  • Periventricular leukomalaciaHP:0006970
  • PlagiocephalyHP:0001357
  • Poor suckHP:0002033
  • Relative macrocephalyHP:0004482
  • ScoliosisHP:0002650
  • Short footHP:0001773
  • Skin-pickingHP:0012166
  • Sleep apneaHP:0010535
  • Sleep disturbanceHP:0002360
  • Small handHP:0200055
  • StrabismusHP:0000486
  • VentriculomegalyHP:0002119