← 返回搜尋

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

ORPHA:1617 · Etiological subtype · Subtype of disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(19)

  • Abnormality iris morphologyHP:0000525
  • Atypical behaviorHP:0000708
  • Bullet-shaped distal phalanx of the halluxHP:0010078
  • Camptodactyly of fingerHP:0100490
  • Cleft palateHP:0000175
  • Downslanted palpebral fissuresHP:0000494
  • Failure to thriveHP:0001508
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Hand clenchingHP:0001188
  • Intellectual disabilityHP:0001249
  • Long fingersHP:0100807
  • Neonatal hypotoniaHP:0001319
  • Posteriorly rotated earsHP:0000358
  • SeizureHP:0001250
  • Severe global developmental delayHP:0011344
  • Short neckHP:0000470
  • Small for gestational ageHP:0001518
  • Toe syndactylyHP:0001770

Frequent (79-30%)(8)

  • Abnormal oral frenulum morphologyHP:0000190
  • Autistic behaviorHP:0000729
  • CataractHP:0000518
  • ColobomaHP:0000589
  • HypertelorismHP:0000316
  • MicrophthalmiaHP:0000568
  • Short philtrumHP:0000322
  • Small faceHP:0000274

Occasional (29-5%)(1)

  • Central apneaHP:0002871