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PLAA-associated neurodevelopmental disorder

ORPHA:521426 · Malformation syndrome · Disorder

HPO 表現型（共 51 項）

Frequent (79-30%)(46)

  • Abnormal cortical gyrationHP:0002536
  • Abnormal facial shapeHP:0001999
  • Abnormality of extrapyramidal motor functionHP:0002071
  • ApneaHP:0002104
  • Bulbar palsyHP:0001283
  • Cerebellar cortical atrophyHP:0008278
  • Cerebral white matter atrophyHP:0012762
  • Contractures of the large jointsHP:0005781
  • Delayed myelinationHP:0012448
  • Delayed speech and language developmentHP:0000750
  • DystoniaHP:0001332
  • Edema of the dorsum of feetHP:0012098
  • Edema of the dorsum of handsHP:0007514
  • Exaggerated startle responseHP:0002267
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Global developmental delayHP:0001263
  • High palateHP:0000218
  • HirsutismHP:0001007
  • Hyperextensibility of the finger jointsHP:0001187
  • Hypoplasia of the corpus callosumHP:0002079
  • HypotoniaHP:0001252
  • HypsarrhythmiaHP:0002521
  • Impaired oropharyngeal swallow responseHP:0031162
  • Intellectual disabilityHP:0001249
  • KyphosisHP:0002808
  • LeukoencephalopathyHP:0002352
  • Limb hypertoniaHP:0002509
  • Long fingersHP:0100807
  • Long philtrumHP:0000343
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Optic atrophyHP:0000648
  • Pectus carinatumHP:0000768
  • Postaxial foot polydactylyHP:0001830
  • Postaxial hand polydactylyHP:0001162
  • Posteriorly rotated earsHP:0000358
  • Progressive spastic quadriplegiaHP:0002478
  • Respiratory insufficiencyHP:0002093
  • RigidityHP:0002063
  • Rocker bottom footHP:0001838
  • Short noseHP:0003196
  • Single transverse palmar creaseHP:0000954
  • Smooth philtrumHP:0000319
  • Tented upper lip vermilionHP:0010804
  • VentriculomegalyHP:0002119

Occasional (29-5%)(5)

  • Bulbar signsHP:0002483
  • HyperhidrosisHP:0000975
  • NystagmusHP:0000639
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407