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WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome

ORPHA:466943 · Malformation syndrome · Disorder

HPO 表現型（共 70 項）

Very frequent (99-80%)(5)

  • Abnormal facial shapeHP:0001999
  • Atypical behaviorHP:0000708
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(16)

  • Abnormality of the outer earHP:0000356
  • Abnormality of visionHP:0000504
  • Absent speechHP:0001344
  • AnxietyHP:0000739
  • Attention deficit hyperactivity disorderHP:0007018
  • ConstipationHP:0002019
  • Delayed fine motor developmentHP:0010862
  • Delayed gross motor developmentHP:0002194
  • Delayed speech and language developmentHP:0000750
  • Feeding difficultiesHP:0011968
  • Gastrointestinal dysmotilityHP:0002579
  • Oral motor hypotoniaHP:0030190
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360
  • Square faceHP:0000321
  • StrabismusHP:0000486

Occasional (29-5%)(37)

  • Aggressive behaviorHP:0000718
  • AsthmaHP:0002099
  • AstigmatismHP:0000483
  • Autistic behaviorHP:0000729
  • Borderline intellectual disabilityHP:0006889
  • BrachydactylyHP:0001156
  • Broad chinHP:0011822
  • Broad nasal tipHP:0000455
  • Bulbous noseHP:0000414
  • Cerebral visual impairmentHP:0100704
  • Deeply set eyeHP:0000490
  • Depressed nasal bridgeHP:0005280
  • Downturned corners of mouthHP:0002714
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • EpicanthusHP:0000286
  • Gastroesophageal refluxHP:0002020
  • HypertelorismHP:0000316
  • Inverted nipplesHP:0003186
  • Long palpebral fissureHP:0000637
  • Moderate intellectual disabilityHP:0002342
  • MyopiaHP:0000545
  • Nasal flaringHP:0030863
  • Nasogastric tube feedingHP:0040288
  • ObesityHP:0001513
  • Poor coordinationHP:0002370
  • Posteriorly rotated earsHP:0000358
  • Prominent antihelixHP:0000395
  • Prominent foreheadHP:0011220
  • Recurrent infectionsHP:0002719
  • Self-injurious behaviorHP:0100716
  • SynophrysHP:0000664
  • Thin upper lip vermilionHP:0000219
  • VentriculomegalyHP:0002119
  • Wide mouthHP:0000154
  • Wide nasal bridgeHP:0000431
  • Widened subarachnoid spaceHP:0012704

Very rare (<4-1%)(12)

  • Arachnoid cystHP:0100702
  • Bilateral tonic-clonic seizureHP:0002069
  • Conductive hearing impairmentHP:0000405
  • Dilatation of renal calicesHP:0100581
  • Febrile seizure (within the age range of 3 months to 6 years)HP:0002373
  • Generalized non-motor (absence) seizureHP:0002121
  • Pelvic kidneyHP:0000125
  • Pes planusHP:0001763
  • Pes valgusHP:0008081
  • Sensorineural hearing impairmentHP:0000407
  • Short palmHP:0004279
  • Single transverse palmar creaseHP:0000954