← 返回搜尋

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

ORPHA:466950 · Clinical subtype · Subtype of disorder

HPO 表現型（共 68 項）

Very frequent (99-80%)(6)

  • Abnormal facial shapeHP:0001999
  • Atypical behaviorHP:0000708
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • Mild intellectual disabilityHP:0001256
  • Motor delayHP:0001270

Frequent (79-30%)(10)

  • Abnormality of the respiratory systemHP:0002086
  • Abnormality of visionHP:0000504
  • AnxietyHP:0000739
  • Attention deficit hyperactivity disorderHP:0007018
  • ConstipationHP:0002019
  • Delayed speech and language developmentHP:0000750
  • Neonatal hypotoniaHP:0001319
  • Sleep disturbanceHP:0002360
  • Square faceHP:0000321
  • StrabismusHP:0000486

Occasional (29-5%)(52)

  • Abnormal nostril morphologyHP:0005288
  • Abnormal pattern of respirationHP:0002793
  • Abnormality of refractionHP:0000539
  • Absent speechHP:0001344
  • Aggressive behaviorHP:0000718
  • Arachnoid cystHP:0100702
  • AsthmaHP:0002099
  • Autistic behaviorHP:0000729
  • Bilateral tonic-clonic seizureHP:0002069
  • Borderline personality disorderHP:0012076
  • BrachydactylyHP:0001156
  • Branchial anomalyHP:0009794
  • Broad chinHP:0011822
  • Broad foreheadHP:0000337
  • Broad nasal tipHP:0000455
  • Bulbous noseHP:0000414
  • Deeply set eyeHP:0000490
  • Depressed nasal bridgeHP:0005280
  • Dilatation of renal calicesHP:0100581
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • EpicanthusHP:0000286
  • Gastroesophageal refluxHP:0002020
  • Hearing impairmentHP:0000365
  • HirsutismHP:0001007
  • HypertelorismHP:0000316
  • Inverted nipplesHP:0003186
  • Long palpebral fissureHP:0000637
  • Nasogastric tube feedingHP:0040288
  • ObesityHP:0001513
  • Pelvic kidneyHP:0000125
  • Pes planusHP:0001763
  • Pes valgusHP:0008081
  • Posteriorly rotated earsHP:0000358
  • Prominent antihelixHP:0000395
  • Prominent fingertip padsHP:0001212
  • Prominent foreheadHP:0011220
  • Recurrent respiratory infectionsHP:0002205
  • Self-injurious behaviorHP:0100716
  • Short palmHP:0004279
  • Simple febrile seizureHP:0011171
  • Single transverse palmar creaseHP:0000954
  • SynophrysHP:0000664
  • Thick eyebrowHP:0000574
  • Thin upper lip vermilionHP:0000219
  • Truncal obesityHP:0001956
  • Typical absence seizureHP:0011147
  • VentriculomegalyHP:0002119
  • Visual lossHP:0000572
  • Wide mouthHP:0000154
  • Wide nasal bridgeHP:0000431
  • Widened subarachnoid spaceHP:0012704