Bainbridge-Ropers syndrome
ORPHA:352577DiseaseAutosomal dominant, Not applicableAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)41
Очень частый (80–99%)5
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0002167Abnormality of speech or vocalization
HP:0008872Feeding difficulties in infancy
HP:0008947Floppy infant
Частый (30–79%)8
HP:0000252Microcephaly
HP:0000486Strabismus
HP:0000729Autistic behavior
HP:0000924Abnormality of the skeletal system
HP:0001344Absent speech
HP:0002187Intellectual disability, profound
HP:0002705High, narrow palate
HP:0010864Intellectual disability, severe
Периодический (5–29%)28
HP:0000194Open mouth
HP:0000232Everted lower lip vermilion
HP:0000268Dolichocephaly
HP:0000316Hypertelorism
HP:0000414Bulbous nose
HP:0000426Prominent nasal bridge
HP:0000430Underdeveloped nasal alae
HP:0000494Downslanted palpebral fissures
HP:0000582Upslanted palpebral fissure
HP:0000664Synophrys
HP:0000678Dental crowding
HP:0001166Arachnodactyly
HP:0001250Seizure
HP:0001276Hypertonia
HP:0001320Cerebellar vermis hypoplasia
HP:0001519Disproportionate tall stature
HP:0001763Pes planus
HP:0002342Intellectual disability, moderate
HP:0002360Sleep abnormality
HP:0002500Abnormal cerebral white matter morphology
HP:0002540Inability to walk
HP:0002553Highly arched eyebrow
HP:0002650Scoliosis
HP:0003189Long nose
HP:0004673Decreased facial expression
HP:0009765Low hanging columella
HP:0011220Prominent forehead
HP:0100023Recurrent hand flapping
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 77 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)