← 返回搜尋

ALG9-CDG

ORPHA:79328 · Disease · Disorder

HPO 表現型（共 86 項）

Very frequent (99-80%)(3)

  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • SeizureHP:0001250

Frequent (79-30%)(7)

  • Abnormal heart morphologyHP:0001627
  • HepatomegalyHP:0002240
  • HypotoniaHP:0001252
  • Inverted nipplesHP:0003186
  • Pericardial effusionHP:0001698
  • Progressive microcephalyHP:0000253
  • Skeletal dysplasiaHP:0002652

Occasional (29-5%)(76)

  • Abnormal bone ossificationHP:0011849
  • Abnormal left ventricular outflow tract morphologyHP:0011103
  • Abnormal lung lobationHP:0002101
  • Abnormal renal artery morphologyHP:0008776
  • Aplasia cutis congenita of scalpHP:0007385
  • AsthmaHP:0002099
  • Atrial septal defectHP:0001631
  • Bicornuate uterusHP:0000813
  • Bifid uvulaHP:0000193
  • BrachycephalyHP:0000248
  • Broad ischiaHP:0100865
  • Cerebellar atrophyHP:0001272
  • Cerebral atrophyHP:0002059
  • Convex nasal ridgeHP:0000444
  • Decreased fetal movementHP:0001558
  • Delayed cranial suture closureHP:0000270
  • Delayed myelinationHP:0012448
  • Depressed nasal bridgeHP:0005280
  • DiarrheaHP:0002014
  • Enlarged kidneyHP:0000105
  • EsotropiaHP:0000565
  • Flared metaphysisHP:0003015
  • Frontal bossingHP:0002007
  • Gastroesophageal refluxHP:0002020
  • Hepatic cystsHP:0001407
  • Hitchhiker thumbHP:0001234
  • HydronephrosisHP:0000126
  • Hydrops fetalisHP:0001789
  • HyperreflexiaHP:0001347
  • HypertelorismHP:0000316
  • HypertrichosisHP:0000998
  • Hypoplasia of the bladderHP:0005343
  • Hypoplasia of the musculatureHP:0009004
  • Hypoplasia of the ovaryHP:0008724
  • Hypoplastic nipplesHP:0002557
  • Inappropriate cryingHP:0030215
  • IrritabilityHP:0000737
  • Large fleshy earsHP:0002265
  • LipodystrophyHP:0009125
  • Long philtrumHP:0000343
  • Low insertion of columellaHP:0010763
  • Low posterior hairlineHP:0002162
  • Low-set earsHP:0000369
  • Lower limb spasticityHP:0002061
  • MicrognathiaHP:0000347
  • MicroretrognathiaHP:0000308
  • Narrow greater sciatic notchHP:0003375
  • OligohydramniosHP:0001562
  • OmphaloceleHP:0001539
  • Periportal fibrosisHP:0001405
  • Posteriorly rotated earsHP:0000358
  • Prominent metopic ridgeHP:0005487
  • ProptosisHP:0000520
  • Pulmonary hypoplasiaHP:0002089
  • RhizomeliaHP:0008905
  • Right ventricular dilatationHP:0005133
  • Shallow orbitsHP:0000586
  • Short long boneHP:0003026
  • Short neckHP:0000470
  • Short noseHP:0003196
  • Smooth philtrumHP:0000319
  • Talipes equinovarusHP:0001762
  • TelecanthusHP:0000506
  • Thickened nuchal skin foldHP:0000474
  • Thin upper lip vermilionHP:0000219
  • TorticollisHP:0000473
  • Tricuspid regurgitationHP:0005180
  • Ulnar deviation of the handHP:0009487
  • Underdeveloped nasal alaeHP:0000430
  • Ureteral hypoplasiaHP:0032464
  • Ventricular septal defectHP:0001629
  • Villous atrophyHP:0011473
  • VomitingHP:0002013
  • Wide anterior fontanelHP:0000260
  • Wide mouthHP:0000154
  • Widened subarachnoid spaceHP:0012704