← 返回搜尋

Trisomy 1q syndrome

ORPHA:261344 · Malformation syndrome · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(3)

  • Depressed nasal bridgeHP:0005280
  • Low-set earsHP:0000369
  • Wide noseHP:0000445

Frequent (79-30%)(12)

  • AnophthalmiaHP:0000528
  • ArachnodactylyHP:0001166
  • Camptodactyly of fingerHP:0100490
  • Cystic hygromaHP:0000476
  • Frontal bossingHP:0002007
  • Increased nuchal translucencyHP:0010880
  • Long footHP:0001833
  • MicroretrognathiaHP:0000308
  • Multicystic kidney dysplasiaHP:0000003
  • Narrow mouthHP:0000160
  • PolyhydramniosHP:0001561
  • VentriculomegalyHP:0002119

Occasional (29-5%)(27)

  • Abnormal rib morphologyHP:0000772
  • Abnormality of the outer earHP:0000356
  • Agenesis of corpus callosumHP:0001274
  • Ambiguous genitaliaHP:0000062
  • Anal atresiaHP:0002023
  • Aplasia/Hypoplasia of the nailsHP:0008386
  • Cerebellar hypoplasiaHP:0001321
  • Cleft palateHP:0000175
  • Congenital diaphragmatic herniaHP:0000776
  • Congenital megaureterHP:0008676
  • CryptorchidismHP:0000028
  • Downslanted palpebral fissuresHP:0000494
  • HydrocephalusHP:0000238
  • HydronephrosisHP:0000126
  • Hydrops fetalisHP:0001789
  • HypertelorismHP:0000316
  • Hypoplastic toenailsHP:0001800
  • HypotelorismHP:0000601
  • MacrocephalyHP:0000256
  • OmphaloceleHP:0001539
  • Patent ductus arteriosusHP:0001643
  • Preaxial hand polydactylyHP:0001177
  • Short thoraxHP:0010306
  • Small scrotumHP:0000046
  • Toe syndactylyHP:0001770
  • Ventricular septal defectHP:0001629
  • Wide intermamillary distanceHP:0006610