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Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion

ORPHA:352665 · Etiological subtype · Subtype of disorder

HPO 表現型（共 90 項）

Very frequent (99-80%)(2)

  • HypotoniaHP:0001252
  • Long palpebral fissureHP:0000637

Frequent (79-30%)(26)

  • Abnormal heart morphologyHP:0001627
  • Broad nasal tipHP:0000455
  • BruxismHP:0003763
  • CraniosynostosisHP:0001363
  • CryptorchidismHP:0000028
  • Delayed ability to walkHP:0031936
  • Dental malocclusionHP:0000689
  • Downturned corners of mouthHP:0002714
  • Exaggerated median tongue furrowHP:0002711
  • Gray matter heterotopiaHP:0002282
  • Growth delayHP:0001510
  • Hip dysplasiaHP:0001385
  • HydronephrosisHP:0000126
  • Inability to walkHP:0002540
  • Increased nuchal translucencyHP:0010880
  • Long faceHP:0000276
  • MacroglossiaHP:0000158
  • MicrocephalyHP:0000252
  • Moderate intellectual disabilityHP:0002342
  • Open mouthHP:0000194
  • Poor speechHP:0002465
  • ScoliosisHP:0002650
  • Severe intellectual disabilityHP:0010864
  • Ventricular septal defectHP:0001629
  • Vesicoureteral refluxHP:0000076
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(62)

  • Abnormal optic nerve morphologyHP:0000587
  • Abnormal primary tooth morphologyHP:0006481
  • Agenesis of corpus callosumHP:0001274
  • Aortic aneurysmHP:0004942
  • AreflexiaHP:0001284
  • Atrial septal defectHP:0001631
  • Bicuspid aortic valveHP:0001647
  • Bifid tongueHP:0010297
  • Bifid uvulaHP:0000193
  • Branchial anomalyHP:0009794
  • Cleft palateHP:0000175
  • Coarse facial featuresHP:0000280
  • ColobomaHP:0000589
  • Conductive hearing impairmentHP:0000405
  • ConstipationHP:0002019
  • Cystic hygromaHP:0000476
  • Diminished deep tendon reflexHP:0001315
  • Easy fatigabilityHP:0003388
  • Episodic vomitingHP:0002572
  • Eversion of lateral third of lower eyelidsHP:0007655
  • Exaggerated cupid's bowHP:0002263
  • Feeding difficulties in infancyHP:0008872
  • Gastrointestinal dysmotilityHP:0002579
  • GastroparesisHP:0002578
  • Heat intoleranceHP:0002046
  • High, narrow palateHP:0002705
  • HyperhidrosisHP:0000975
  • HypermetropiaHP:0000540
  • Hypoplasia of the corpus callosumHP:0002079
  • HypothyroidismHP:0000821
  • Impaired pain sensationHP:0007328
  • Intestinal pseudo-obstructionHP:0004389
  • Inverted nipplesHP:0003186
  • Joint hypermobilityHP:0001382
  • Lambdoidal craniosynostosisHP:0004443
  • Metopic synostosisHP:0011330
  • Muscle weaknessHP:0001324
  • MyopiaHP:0000545
  • Nasogastric tube feeding in infancyHP:0011470
  • Nocturnal hypoventilationHP:0002877
  • Open biteHP:0010807
  • Optic nerve hypoplasiaHP:0000609
  • OsteopeniaHP:0000938
  • OvergrowthHP:0001548
  • Pes planusHP:0001763
  • Postaxial polydactylyHP:0100259
  • Preauricular pitHP:0004467
  • Prominent metopic ridgeHP:0005487
  • Protruding earHP:0000411
  • PtosisHP:0000508
  • Recurrent feverHP:0001954
  • Sagittal craniosynostosisHP:0004442
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Shallow orbitsHP:0000586
  • Supernumerary nippleHP:0002558
  • Talipes equinovarusHP:0001762
  • Tooth agenesisHP:0009804
  • Type 1 muscle fiber atrophyHP:0011807
  • Typical absence seizureHP:0011147
  • Underdeveloped nasal alaeHP:0000430
  • Vertebral segmentation defectHP:0003422