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Hypomyelination neuropathy-arthrogryposis syndrome
ORPHA:2680 · Malformation syndrome · Disorder
HPO 表現型（共 5 項）
Very frequent (99-80%)(5)
- Diminished deep tendon reflexHP:0001315
- EMG abnormalityHP:0003457
- HypotoniaHP:0001252
- Limitation of joint mobilityHP:0001376
- Respiratory distressHP:0002098