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Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
ORPHA:1933 · Disease · Disorder
HPO 表現型（共 23 項）
Very frequent (99-80%)(23)
- Abnormal electroretinogramHP:0000512
- Abnormality of visual evoked potentialsHP:0000649
- AminoaciduriaHP:0003355
- AtaxiaHP:0001251
- Atypical behaviorHP:0000708
- CachexiaHP:0004326
- Cerebral calcificationHP:0002514
- Decreased nerve conduction velocityHP:0000762
- Delayed gross motor developmentHP:0002194
- Elevated circulating creatine kinase activityHP:0003236
- Generalized hirsutismHP:0002230
- Global developmental delayHP:0001263
- HyporeflexiaHP:0001265
- Intellectual disability, progressiveHP:0006887
- Methylmalonic aciduriaHP:0012120
- MicrocephalyHP:0000252
- PtosisHP:0000508
- SeizureHP:0001250
- Sensorineural hearing impairmentHP:0000407
- Short statureHP:0004322
- Skeletal muscle atrophyHP:0003202
- VentriculomegalyHP:0002119
- Visual impairmentHP:0000505