← 返回搜尋

17q12 microdeletion syndrome

ORPHA:261265 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(1)

  • Multicystic kidney dysplasiaHP:0000003

Frequent (79-30%)(2)

  • Diabetes mellitusHP:0000819
  • Short statureHP:0004322

Occasional (29-5%)(18)

  • AutismHP:0000717
  • Cerebral atrophyHP:0002059
  • CryptorchidismHP:0000028
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Feeding difficultiesHP:0011968
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • Intellectual disabilityHP:0001249
  • Language impairmentHP:0002463
  • Large fontanellesHP:0000239
  • OligohydramniosHP:0001562
  • Pancreatic aplasiaHP:0100801
  • Renal hypoplasia/aplasiaHP:0008678
  • Renal insufficiencyHP:0000083
  • SeizureHP:0001250
  • Shawl scrotumHP:0000049
  • Subcortical cerebral atrophyHP:0012157
  • UreteroceleHP:0000070