보쉬-분스트라-샤프 시신경위축 증후군

유전자 (1건)

유병률 (2건)

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

국제 의학 용어 — 표현형 (HPO · 영문 원본)(39건 중 상위 30건 표시)

• Optic atrophy빈번 (79-30%)
• Autistic behavior빈번 (79-30%)
• Intellectual disability빈번 (79-30%)
• Seizure빈번 (79-30%)
• Hypotonia빈번 (79-30%)
• Global developmental delay빈번 (79-30%)
• Abnormal facial shape빈번 (79-30%)
• Hypoplasia of the corpus callosum빈번 (79-30%)
• Reduced visual acuity빈번 (79-30%)
• Epicanthus가끔 (29-5%)
• Hearing impairment가끔 (29-5%)
• Protruding ear가끔 (29-5%)
• Prominent nasal bridge가끔 (29-5%)
• Anteverted nares가끔 (29-5%)
• Strabismus가끔 (29-5%)
• Esotropia가끔 (29-5%)
• Exotropia가끔 (29-5%)
• Upslanted palpebral fissure가끔 (29-5%)
• Optic nerve hypoplasia가끔 (29-5%)
• Amblyopia가끔 (29-5%)
• Compulsive behaviors가끔 (29-5%)
• Visual field defect가끔 (29-5%)
• Tapered finger가끔 (29-5%)
• Absent speech가끔 (29-5%)
• Short nasal bridge가끔 (29-5%)
• Attention deficit hyperactivity disorder가끔 (29-5%)
• Optic disc hypoplasia가끔 (29-5%)
• Repetitive compulsive behavior가끔 (29-5%)
• Abnormality of the helix가끔 (29-5%)
• Cerebral visual impairment가끔 (29-5%)