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Macrocephaly-intellectual disability-left ventricular non compaction syndrome

ORPHA:466791 · Malformation syndrome · Disorder

HPO 表現型（共 77 項）

Very frequent (99-80%)(1)

  • Relative macrocephalyHP:0004482

Frequent (79-30%)(28)

  • Abnormal facial shapeHP:0001999
  • Abnormal left ventricle morphologyHP:0001711
  • AnxietyHP:0000739
  • Delayed gross motor developmentHP:0002194
  • Delayed speech and language developmentHP:0000750
  • Dental crowdingHP:0000678
  • Dysplastic corpus callosumHP:0006989
  • Excessive shynessHP:0100962
  • Feeding difficultiesHP:0011968
  • Generalized hypotoniaHP:0001290
  • High, narrow palateHP:0002705
  • Hypernasal speechHP:0001611
  • KyphoscoliosisHP:0002751
  • Long faceHP:0000276
  • Malar flatteningHP:0000272
  • Mild intellectual disabilityHP:0001256
  • MyopiaHP:0000545
  • Narrow nasal bridgeHP:0000446
  • Open mouthHP:0000194
  • Pes planusHP:0001763
  • Poor head controlHP:0002421
  • Poor suckHP:0002033
  • Prominent nasal bridgeHP:0000426
  • Prominent noseHP:0000448
  • Slender buildHP:0001533
  • StrabismusHP:0000486
  • Synostosis involving the 1st metacarpalHP:0009703
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(48)

  • Abnormal cardiac ventricular functionHP:0030872
  • Aggressive behaviorHP:0000718
  • Anterior pituitary hypoplasiaHP:0010627
  • AtaxiaHP:0001251
  • Atrial septal defectHP:0001631
  • AutismHP:0000717
  • Bilateral cryptorchidismHP:0008689
  • Cerebellar hypoplasiaHP:0001321
  • Chiari type I malformationHP:0007099
  • Clinodactyly of the 5th fingerHP:0004209
  • Confetti-like hypopigmented maculesHP:0007449
  • CryptorchidismHP:0000028
  • Delayed pubertyHP:0000823
  • Downslanted palpebral fissuresHP:0000494
  • Ebstein anomaly of the tricuspid valveHP:0010316
  • EpicanthusHP:0000286
  • Failure to thriveHP:0001508
  • Frontal bossingHP:0002007
  • Gastroesophageal refluxHP:0002020
  • Hallux valgusHP:0001822
  • Hyperactive patellar reflexHP:0007083
  • HypertelorismHP:0000316
  • Hypoplasia of the corpus callosumHP:0002079
  • Infantile constant exotropiaHP:0032009
  • Intention tremorHP:0002080
  • Joint hypermobilityHP:0001382
  • Left ventricular hypertrophyHP:0001712
  • Nasogastric tube feedingHP:0040288
  • Obstructive sleep apneaHP:0002870
  • Patent ductus arteriosusHP:0001643
  • Patent foramen ovaleHP:0001655
  • PlagiocephalyHP:0001357
  • Poor speechHP:0002465
  • Pseudobulbar paralysisHP:0007024
  • Right ventricular hypertrophyHP:0001667
  • SeizureHP:0001250
  • Short philtrumHP:0000322
  • Speech apraxiaHP:0011098
  • Supernumerary nippleHP:0002558
  • Talipes valgusHP:0004684
  • Thick vermilion borderHP:0012471
  • Thickened calvariaHP:0002684
  • Thin upper lip vermilionHP:0000219
  • Triangular faceHP:0000325
  • Tricuspid regurgitationHP:0005180
  • Ventricular septal defectHP:0001629
  • Wide mouthHP:0000154
  • Widely spaced teethHP:0000687