베인브릿지-로퍼스 증후군

유전자 (1건)

유병률 (2건)

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

국제 의학 용어 — 표현형 (HPO · 영문 원본)(41건 중 상위 30건 표시)

• Intellectual disability매우 빈번 (99-80%)
• Global developmental delay매우 빈번 (99-80%)
• Abnormality of speech or vocalization매우 빈번 (99-80%)
• Feeding difficulties in infancy매우 빈번 (99-80%)
• Floppy infant매우 빈번 (99-80%)
• Microcephaly빈번 (79-30%)
• Strabismus빈번 (79-30%)
• Autistic behavior빈번 (79-30%)
• Abnormality of the skeletal system빈번 (79-30%)
• Absent speech빈번 (79-30%)
• Intellectual disability, profound빈번 (79-30%)
• High, narrow palate빈번 (79-30%)
• Intellectual disability, severe빈번 (79-30%)
• Open mouth가끔 (29-5%)
• Everted lower lip vermilion가끔 (29-5%)
• Dolichocephaly가끔 (29-5%)
• Hypertelorism가끔 (29-5%)
• Bulbous nose가끔 (29-5%)
• Prominent nasal bridge가끔 (29-5%)
• Underdeveloped nasal alae가끔 (29-5%)
• Downslanted palpebral fissures가끔 (29-5%)
• Upslanted palpebral fissure가끔 (29-5%)
• Synophrys가끔 (29-5%)
• Dental crowding가끔 (29-5%)
• Arachnodactyly가끔 (29-5%)
• Seizure가끔 (29-5%)
• Hypertonia가끔 (29-5%)
• Cerebellar vermis hypoplasia가끔 (29-5%)
• Disproportionate tall stature가끔 (29-5%)
• Pes planus가끔 (29-5%)