← 返回搜尋

Autosomal dominant primary microcephaly

ORPHA:2514 · Etiological subtype · Subtype of disorder

HPO 表現型（共 6 項）

Very frequent (99-80%)(3)

  • MicrocephalyHP:0000252
  • Short statureHP:0004322
  • Tooth agenesisHP:0009804

Frequent (79-30%)(1)

  • Alternating esotropiaHP:0001137

Occasional (29-5%)(2)

  • Horizontal nystagmusHP:0000666
  • Protruding earHP:0000411