레이노-클라스 증후군

유전자 (1건)

유병률 (2건)

• •<1 / 1 000 000 · Worldwide · Point prevalence
• •Worldwide · Cases/families

국제 의학 용어 — 표현형 (HPO · 영문 원본)(45건 중 상위 30건 표시)

• Global developmental delay매우 빈번 (99-80%)
• Atypical behavior빈번 (79-30%)
• Seizure빈번 (79-30%)
• Cerebral cortical atrophy빈번 (79-30%)
• Intellectual disability, moderate빈번 (79-30%)
• Abnormal cerebral white matter morphology빈번 (79-30%)
• Intellectual disability, severe빈번 (79-30%)
• Microcephaly가끔 (29-5%)
• Macrocephaly가끔 (29-5%)
• Strabismus가끔 (29-5%)
• Depression가끔 (29-5%)
• Aggressive behavior가끔 (29-5%)
• Compulsive behaviors가끔 (29-5%)
• Autistic behavior가끔 (29-5%)
• Anxiety가끔 (29-5%)
• Hyperactivity가끔 (29-5%)
• Myoclonus가끔 (29-5%)
• Gastroesophageal reflux가끔 (29-5%)
• Lower limb spasticity가끔 (29-5%)
• Bilateral tonic-clonic seizure가끔 (29-5%)
• Progressive cerebellar ataxia가끔 (29-5%)
• Hypoplasia of the corpus callosum가끔 (29-5%)
• Ventriculomegaly가끔 (29-5%)
• Generalized non-motor (absence) seizure가끔 (29-5%)
• Focal impaired awareness seizure가끔 (29-5%)
• Scoliosis가끔 (29-5%)
• Periventricular leukomalacia가끔 (29-5%)
• Bipolar affective disorder가끔 (29-5%)
• Floppy infant가끔 (29-5%)
• Focal tonic seizure가끔 (29-5%)