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Gabriele-de Vries syndrome

ORPHA:506358 · Malformation syndrome · Disorder

HPO 表現型（共 73 項）

Very frequent (99-80%)(6)

  • Abnormal facial shapeHP:0001999
  • Broad foreheadHP:0000337
  • Bulbous noseHP:0000414
  • Global developmental delayHP:0001263
  • Malar flatteningHP:0000272
  • Thick lower lip vermilionHP:0000179

Frequent (79-30%)(17)

  • Abnormality of upper lip vermillionHP:0011339
  • Atypical behaviorHP:0000708
  • Delayed ability to walkHP:0031936
  • Delayed speech and language developmentHP:0000750
  • Downslanted palpebral fissuresHP:0000494
  • Facial asymmetryHP:0000324
  • Feeding difficulties in infancyHP:0008872
  • Gastrostomy tube feeding in infancyHP:0011471
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • Mild intellectual disabilityHP:0001256
  • Moderate intellectual disabilityHP:0002342
  • Oral-pharyngeal dysphagiaHP:0200136
  • Periorbital fullnessHP:0000629
  • Pointed chinHP:0000307
  • Posteriorly rotated earsHP:0000358
  • StrabismusHP:0000486

Occasional (29-5%)(50)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormality of the dentitionHP:0000164
  • Absent speechHP:0001344
  • Agenesis of corpus callosumHP:0001274
  • AnxietyHP:0000739
  • AstigmatismHP:0000483
  • Attention deficit hyperactivity disorderHP:0007018
  • AutismHP:0000717
  • Autistic behaviorHP:0000729
  • Breast hypoplasiaHP:0003187
  • CraniosynostosisHP:0001363
  • CryptorchidismHP:0000028
  • Decreased response to growth hormone stimulation testHP:0000824
  • Delayed myelinationHP:0012448
  • Distal arthrogryposisHP:0005684
  • Distal lower limb amyotrophyHP:0008944
  • DolichocephalyHP:0000268
  • DystoniaHP:0001332
  • Ebstein anomaly of the tricuspid valveHP:0010316
  • Esophageal atresiaHP:0002032
  • Facial hypotoniaHP:0000297
  • Finger joint hypermobilityHP:0006094
  • Frontal upsweep of hairHP:0002236
  • GliosisHP:0002171
  • Hallux valgusHP:0001822
  • High palateHP:0000218
  • HydronephrosisHP:0000126
  • Hyperextensible skinHP:0000974
  • HypermetropiaHP:0000540
  • Hypoplasia of the corpus callosumHP:0002079
  • HypothyroidismHP:0000821
  • Lacrimal duct stenosisHP:0007678
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • NeuroblastomaHP:0003006
  • Patellar subluxationHP:0010499
  • Patent foramen ovaleHP:0001655
  • PtosisHP:0000508
  • Recurrent infectionsHP:0002719
  • Sandal gapHP:0001852
  • Severe global developmental delayHP:0011344
  • Severe intellectual disabilityHP:0010864
  • Small for gestational ageHP:0001518
  • Sparse eyebrowHP:0045075
  • Sydney creaseHP:0011311
  • TelecanthusHP:0000506
  • TremorHP:0001337
  • Ureteropelvic junction obstructionHP:0000074
  • VentriculomegalyHP:0002119
  • Waddling gaitHP:0002515