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X-linked intellectual disability, Najm type

ORPHA:163937 · Disease · Disorder

HPO 表現型（共 46 項）

Very frequent (99-80%)(5)

  • Cerebellar hypoplasiaHP:0001321
  • Hypoplasia of the ponsHP:0012110
  • Moderate intellectual disabilityHP:0002342
  • Progressive microcephalyHP:0000253
  • Severe global developmental delayHP:0011344

Frequent (79-30%)(29)

  • Appendicular spasticityHP:0034353
  • Axial hypotoniaHP:0008936
  • Broad foreheadHP:0000337
  • Broad nasal tipHP:0000455
  • Cerebral cortical atrophyHP:0002120
  • DystoniaHP:0001332
  • Epileptic encephalopathyHP:0200134
  • Epileptic spasmHP:0011097
  • Feeding difficulties in infancyHP:0008872
  • Floppy infantHP:0008947
  • Gait disturbanceHP:0001288
  • Highly arched eyebrowHP:0002553
  • HypertelorismHP:0000316
  • Long philtrumHP:0000343
  • MacrotiaHP:0000400
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Myoclonic seizureHP:0032794
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • RetrognathiaHP:0000278
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Short noseHP:0003196
  • Sleep disturbanceHP:0002360
  • Stereotypical hand wringingHP:0012171
  • StrabismusHP:0000486
  • Visual impairmentHP:0000505
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(12)

  • Absent speechHP:0001344
  • Autistic behaviorHP:0000729
  • DyskinesiaHP:0100660
  • Failure to thriveHP:0001508
  • Optic atrophyHP:0000648
  • Optic disc pallorHP:0000543
  • Optic nerve hypoplasiaHP:0000609
  • Proportionate short statureHP:0003508
  • RigidityHP:0002063
  • ScoliosisHP:0002650
  • SpasticityHP:0001257
  • Unsteady gaitHP:0002317