← 返回搜尋

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome

ORPHA:85329 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(16)

  • Abnormal facial shapeHP:0001999
  • Aggressive behaviorHP:0000718
  • Feeding difficultiesHP:0011968
  • Gait disturbanceHP:0001288
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • High foreheadHP:0000348
  • Long faceHP:0000276
  • Long noseHP:0003189
  • MicrocephalyHP:0000252
  • Open mouthHP:0000194
  • Profound intellectual disabilityHP:0002187
  • Protruding earHP:0000411
  • Short chinHP:0000331
  • Skeletal muscle atrophyHP:0003202
  • Triangular faceHP:0000325

Frequent (79-30%)(2)

  • EEG abnormalityHP:0002353
  • MyopathyHP:0003198

Occasional (29-5%)(1)

  • Short statureHP:0004322