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FOXG1 syndrome due to 14q12 microdeletion

ORPHA:261144 · Clinical subtype · Subtype of disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(15)

  • Abnormal antihelix morphologyHP:0009738
  • Absent speechHP:0001344
  • Bulbous noseHP:0000414
  • Depressed nasal bridgeHP:0005280
  • Developmental regressionHP:0002376
  • EpicanthusHP:0000286
  • Everted lower lip vermilionHP:0000232
  • Feeding difficultiesHP:0011968
  • Growth delayHP:0001510
  • HypotoniaHP:0001252
  • MicrocephalyHP:0000252
  • Motor stereotypyHP:0000733
  • Protruding earHP:0000411
  • Severe intellectual disabilityHP:0010864
  • Tented upper lip vermilionHP:0010804

Frequent (79-30%)(14)

  • Agenesis of corpus callosumHP:0001274
  • BlepharophimosisHP:0000581
  • Downslanted palpebral fissuresHP:0000494
  • Excessive salivationHP:0003781
  • Gastroesophageal refluxHP:0002020
  • KyphosisHP:0002808
  • MacroglossiaHP:0000158
  • Mandibular prognathiaHP:0000303
  • Palpebral edemaHP:0100540
  • Prominent metopic ridgeHP:0005487
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short noseHP:0003196
  • Smooth philtrumHP:0000319