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Pelizaeus-Merzbacher disease in female carriers
ORPHA:280229 · Clinical subtype · Subtype of disorder
HPO 表現型（共 28 項）
Occasional (29-5%)(28)
- Abnormal corpus callosum morphologyHP:0001273
- Abnormal speech patternHP:0002167
- Abnormality of the lower urinary tractHP:0010936
- Anomic aphasiaHP:0030784
- Babinski signHP:0003487
- CNS hypomyelinationHP:0003429
- Decreased vigilanceHP:0032044
- Deeply set eyeHP:0000490
- Developmental regressionHP:0002376
- Gait disturbanceHP:0001288
- Generalized-onset seizureHP:0002197
- Growth delayHP:0001510
- Hand apraxiaHP:0032588
- Horizontal nystagmusHP:0000666
- Hyperintensity of cerebral white matter on MRIHP:0030890
- HyperreflexiaHP:0001347
- HypertelorismHP:0000316
- HypotoniaHP:0001252
- Inability to walkHP:0002540
- Lower limb spasticityHP:0002061
- Mental deteriorationHP:0001268
- Midface retrusionHP:0011800
- Mild global developmental delayHP:0011342
- Moderate global developmental delayHP:0011343
- Neurogenic bladderHP:0000011
- Nevus flammeus of the foreheadHP:0007413
- NystagmusHP:0000639
- Spastic paraparesisHP:0002313