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Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

ORPHA:496641 · Malformation syndrome · Disorder

HPO 表現型（共 56 項）

Very frequent (99-80%)(6)

  • Cerebral cortical atrophyHP:0002120
  • Growth delayHP:0001510
  • Hypoplasia of the corpus callosumHP:0002079
  • Muscle weaknessHP:0001324
  • Skeletal muscle atrophyHP:0003202
  • SpasticityHP:0001257

Frequent (79-30%)(16)

  • Absent smooth pursuitHP:0007179
  • Absent speechHP:0001344
  • Bilateral tonic-clonic seizureHP:0002069
  • Cerebellar atrophyHP:0001272
  • Cerebral hypomyelinationHP:0006808
  • Feeding difficultiesHP:0011968
  • Floppy infantHP:0008947
  • Generalized tonic seizureHP:0010818
  • Global developmental delayHP:0001263
  • Optic atrophyHP:0000648
  • Poor speechHP:0002465
  • Profound intellectual disabilityHP:0002187
  • Progressive spasticityHP:0002191
  • Respiratory failureHP:0002878
  • Secondary microcephalyHP:0005484
  • TetraplegiaHP:0002445

Occasional (29-5%)(21)

  • AreflexiaHP:0001284
  • Arthrogryposis multiplex congenitaHP:0002804
  • AtaxiaHP:0001251
  • Chronic constipationHP:0012450
  • Developmental regressionHP:0002376
  • DysphagiaHP:0002015
  • Elevated circulating creatine kinase activityHP:0003236
  • FasciculationsHP:0002380
  • HypertelorismHP:0000316
  • MicrognathiaHP:0000347
  • Moderate intellectual disabilityHP:0002342
  • PlagiocephalyHP:0001357
  • PolyhydramniosHP:0001561
  • Primary microcephalyHP:0011451
  • Recurrent long bone fracturesHP:0003084
  • Respiratory failure requiring assisted ventilationHP:0004887
  • ScoliosisHP:0002650
  • Sparse eyebrowHP:0045075
  • Upslanted palpebral fissureHP:0000582
  • Urinary incontinenceHP:0000020
  • Widely spaced teethHP:0000687

Very rare (<4-1%)(13)

  • Bowel incontinenceHP:0002607
  • CataplexyHP:0002524
  • Congenital hip dislocationHP:0001374
  • DystoniaHP:0001332
  • Febrile seizure (within the age range of 3 months to 6 years)HP:0002373
  • HirsutismHP:0001007
  • MacrotiaHP:0000400
  • Motor axonal neuropathyHP:0007002
  • Motor stereotypyHP:0000733
  • Neurogenic bladderHP:0000011
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • Recurrent pneumoniaHP:0006532