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Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

ORPHA:502423 · Disease · Disorder

HPO 表現型（共 47 項）

Frequent (79-30%)(43)

  • Abnormality of globe sizeHP:0100887
  • AnxietyHP:0000739
  • Cerebellar hypoplasiaHP:0001321
  • Delayed skeletal maturationHP:0002750
  • Delayed speech and language developmentHP:0000750
  • DepressionHP:0000716
  • DysdiadochokinesisHP:0002075
  • DysmetriaHP:0001310
  • EMG: myopathic abnormalitiesHP:0003458
  • Gait disturbanceHP:0001288
  • Generalized hypotoniaHP:0001290
  • Generalized joint hypermobilityHP:0002761
  • Gowers signHP:0003391
  • Growth delayHP:0001510
  • Hearing impairmentHP:0000365
  • High palateHP:0000218
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • HyperthyroidismHP:0000836
  • HyporeflexiaHP:0001265
  • HypotelorismHP:0000601
  • Increased circulating prolactin concentrationHP:0000870
  • Increased intramyocellular lipid dropletsHP:0012240
  • Increased muscle glycogen contentHP:0009051
  • Increased variability in muscle fiber diameterHP:0003557
  • LipomaHP:0012032
  • Long faceHP:0000276
  • MicrognathiaHP:0000347
  • Mild intellectual disabilityHP:0001256
  • Mildly elevated creatine kinaseHP:0008180
  • Mitochondrial myopathyHP:0003737
  • Motor delayHP:0001270
  • MyalgiaHP:0003326
  • Pectus excavatumHP:0000767
  • Pes cavusHP:0001761
  • Primary amenorrheaHP:0000786
  • Progressive cerebellar ataxiaHP:0002073
  • Proximal muscle weaknessHP:0003701
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Somatic sensory dysfunctionHP:0003474
  • Thick hairHP:0100874
  • TremorHP:0001337
  • Weakness of facial musculatureHP:0030319

Occasional (29-5%)(2)

  • Autistic behaviorHP:0000729
  • SchizophreniaHP:0100753

Very rare (<4-1%)(2)

  • Optic disc pallorHP:0000543
  • Pigmentary retinopathyHP:0000580