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Multiple congenital anomalies-hypotonia-seizures syndrome

ORPHA:280633 · Malformation syndrome · Disorder

HPO 表現型（共 86 項）

Very frequent (99-80%)(5)

  • Global developmental delayHP:0001263
  • NystagmusHP:0000639
  • SeizureHP:0001250
  • Severe global developmental delayHP:0011344
  • Severe muscular hypotoniaHP:0006829

Frequent (79-30%)(17)

  • BrachydactylyHP:0001156
  • Coarse facial featuresHP:0000280
  • Delayed myelinationHP:0012448
  • Feeding difficulties in infancyHP:0008872
  • Gastroesophageal refluxHP:0002020
  • High palateHP:0000218
  • Hoarse cryHP:0001615
  • HyporeflexiaHP:0001265
  • Macrocephaly at birthHP:0004488
  • Patent foramen ovaleHP:0001655
  • Prominent palatine ridgesHP:0010291
  • Prominent superior crus of antihelixHP:0011247
  • Short footHP:0001773
  • Small handHP:0200055
  • StrabismusHP:0000486
  • Tapered fingerHP:0001182
  • TremorHP:0001337

Occasional (29-5%)(64)

  • Abnormal posterior cranial fossa morphologyHP:0000932
  • Abnormal renal collecting system morphologyHP:0004742
  • AmblyopiaHP:0000646
  • Anal atresiaHP:0002023
  • Anal stenosisHP:0002025
  • Anteverted naresHP:0000463
  • Aortic root aneurysmHP:0002616
  • Asymmetric crying faceHP:0011333
  • AthetosisHP:0002305
  • Atrial septal defectHP:0001631
  • BlepharitisHP:0000498
  • Cerebellar atrophyHP:0001272
  • Congenital megaureterHP:0008676
  • Deep longitudinal plantar creaseHP:0004681
  • DysphagiaHP:0002015
  • Elevated circulating alpha-fetoprotein concentrationHP:0006254
  • EpicanthusHP:0000286
  • EsotropiaHP:0000565
  • Fair hairHP:0002286
  • Flexion contracture of toeHP:0005830
  • Full cheeksHP:0000293
  • Generalized muscle weaknessHP:0003324
  • Gingival overgrowthHP:0000212
  • Hydrocele testisHP:0000034
  • HydronephrosisHP:0000126
  • HydroureterHP:0000072
  • Hyperpigmented/hypopigmented maculesHP:0007441
  • HyperreflexiaHP:0001347
  • HypertelorismHP:0000316
  • Hypoplasia of the corpus callosumHP:0002079
  • Hypoplastic fingernailHP:0001804
  • Increased nuchal translucencyHP:0010880
  • Large fleshy earsHP:0002265
  • MicroretrognathiaHP:0000308
  • MicrotiaHP:0008551
  • Narrow chestHP:0000774
  • Narrow mouthHP:0000160
  • Overfolded helixHP:0000396
  • Partial absence of cerebellar vermisHP:0002951
  • Patent ductus arteriosusHP:0001643
  • Peripheral pulmonary artery stenosisHP:0004969
  • Pes cavusHP:0001761
  • Prominent occiputHP:0000269
  • Prominent tragusHP:0011271
  • Proportionate shortening of all digitsHP:0006165
  • Proximal lower limb muscle weaknessHP:0008994
  • Pulmonary arterial hypertensionHP:0002092
  • Rectovestibular fistulaHP:0025025
  • Recurrent aspiration pneumoniaHP:0002100
  • Right ventricular hypertrophyHP:0001667
  • Short neckHP:0000470
  • Short noseHP:0003196
  • Small foreheadHP:0000350
  • Smooth philtrumHP:0000319
  • SynophrysHP:0000664
  • Tented upper lip vermilionHP:0010804
  • Thin lower lip vermilionHP:0010282
  • Thin upper lip vermilionHP:0000219
  • Unilateral renal dysplasiaHP:0008718
  • Upslanted palpebral fissureHP:0000582
  • Urinary bladder wall hypertrophyHP:0008635
  • VentriculomegalyHP:0002119
  • Vertical nystagmusHP:0010544
  • Wide mouthHP:0000154