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X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome

ORPHA:459070 · Malformation syndrome · Disorder

HPO 表現型（共 63 項）

Very frequent (99-80%)(3)

  • Abnormal facial shapeHP:0001999
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(15)

  • Absent speechHP:0001344
  • Anteverted earsHP:0040080
  • AtaxiaHP:0001251
  • AutismHP:0000717
  • Cerebellar hypoplasiaHP:0001321
  • CryptorchidismHP:0000028
  • Delayed speech and language developmentHP:0000750
  • Floppy infantHP:0008947
  • Gastroesophageal refluxHP:0002020
  • Growth delayHP:0001510
  • MacrotiaHP:0000400
  • Mandibular prognathiaHP:0000303
  • MicrocephalyHP:0000252
  • ScoliosisHP:0002650
  • Spondyloepiphyseal dysplasiaHP:0002655

Occasional (29-5%)(45)

  • Atrial septal defectHP:0001631
  • Bilateral tonic-clonic seizureHP:0002069
  • Broad foreheadHP:0000337
  • Clinodactyly of the 5th fingerHP:0004209
  • Decreased testicular sizeHP:0008734
  • Delayed pubertyHP:0000823
  • Dilatation of the ventricular cavityHP:0006698
  • DolichocephalyHP:0000268
  • EpicanthusHP:0000286
  • Everted lower lip vermilionHP:0000232
  • ExotropiaHP:0000577
  • Febrile seizure (within the age range of 3 months to 6 years)HP:0002373
  • Focal-onset seizureHP:0007359
  • Generalized tonic seizureHP:0010818
  • HirsutismHP:0001007
  • HypospadiasHP:0000047
  • Inability to walkHP:0002540
  • Increased theta frequency activity in EEGHP:0031535
  • Inguinal herniaHP:0000023
  • LaryngomalaciaHP:0001601
  • LipomaHP:0012032
  • Long faceHP:0000276
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • Lower-limb joint contractureHP:0005750
  • MicroretrognathiaHP:0000308
  • MyopiaHP:0000545
  • Narrow mouthHP:0000160
  • Narrow palpebral fissureHP:0045025
  • OsteoporosisHP:0000939
  • PolyhydramniosHP:0001561
  • Protruding earHP:0000411
  • Pulmonary artery stenosisHP:0004415
  • Recurrent infectionsHP:0002719
  • Rod-cone dystrophyHP:0000510
  • Sacral dimpleHP:0000960
  • Sensorineural hearing impairmentHP:0000407
  • Short fingerHP:0009381
  • Single transverse palmar creaseHP:0000954
  • Smooth philtrumHP:0000319
  • Tapered fingerHP:0001182
  • Thin upper lip vermilionHP:0000219
  • Toe syndactylyHP:0001770
  • Ventricular septal defectHP:0001629
  • Wide nasal ridgeHP:0012811