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Ring chromosome 20 syndrome

ORPHA:1444 · Malformation syndrome · Disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(2)

EEG abnormalityHP:0002353
Non-convulsive status epilepticus without comaHP:0032671

Frequent (79-30%)(5)

Atypical behaviorHP:0000708
Epileptic encephalopathyHP:0200134
Focal motor seizureHP:0011153
Mental deteriorationHP:0001268
Nocturnal seizuresHP:0031951

Occasional (29-5%)(5)

Growth delayHP:0001510
Intellectual disabilityHP:0001249
Neurodevelopmental delayHP:0012758
Short attention spanHP:0000736
Specific learning disabilityHP:0001328