레지우스 증후군

유전자 (1건)

유병률 (1건)

• •1-9 / 100 000 · Worldwide · Prevalence at birth

국제 의학 용어 — 표현형 (HPO · 영문 원본)(42건 중 상위 30건 표시)

• Multiple cafe-au-lait spots매우 빈번 (99-80%)
• Atypical behavior빈번 (79-30%)
• Axillary freckling빈번 (79-30%)
• Specific learning disability빈번 (79-30%)
• Inguinal freckling빈번 (79-30%)
• Macrocephaly가끔 (29-5%)
• Short attention span가끔 (29-5%)
• Hyperactivity가끔 (29-5%)
• Abnormal sternum morphology가끔 (29-5%)
• Multiple lipomas가끔 (29-5%)
• Short stature가끔 (29-5%)
• Hearing impairment매우 드묾 (1-4%)
• Cataract매우 드묾 (1-4%)
• Delayed speech and language development매우 드묾 (1-4%)
• Nephrolithiasis매우 드묾 (1-4%)
• Xanthelasma매우 드묾 (1-4%)
• Seizure매우 드묾 (1-4%)
• Hypotonia매우 드묾 (1-4%)
• Motor delay매우 드묾 (1-4%)
• Dystonia매우 드묾 (1-4%)
• Mitral valve prolapse매우 드묾 (1-4%)
• Pulmonic stenosis매우 드묾 (1-4%)
• Scoliosis매우 드묾 (1-4%)
• Nephroblastoma매우 드묾 (1-4%)
• Clinodactyly of the 5th finger매우 드묾 (1-4%)
• Acute monocytic leukemia매우 드묾 (1-4%)
• Paroxysmal atrial tachycardia매우 드묾 (1-4%)
• Attention deficit hyperactivity disorder매우 드묾 (1-4%)
• Chiari type I malformation매우 드묾 (1-4%)
• Vestibular schwannoma매우 드묾 (1-4%)