Birk-Barel syndrome
ORPHA:166108DiseaseAutosomal dominantInfancy
Ассоциированные гены1
Фенотипы (HPO)33
Частый (30–79%)26
HP:0000194Open mouth
HP:0000268Dolichocephaly
HP:0000289Broad philtrum
HP:0000322Short philtrum
HP:0000338Hypomimic face
HP:0000341Narrow forehead
HP:0000347Micrognathia
HP:0000411Protruding ear
HP:0000446Narrow nasal bridge
HP:0000455Broad nasal tip
HP:0000752Hyperactivity
HP:0000960Sacral dimple
HP:0001263Global developmental delay
HP:0001290Generalized hypotonia
HP:0001319Neonatal hypotonia
HP:0001618Dysphonia
HP:0002015Dysphagia
HP:0002553Highly arched eyebrow
HP:0002705High, narrow palate
HP:0010804Tented upper lip vermilion
HP:0011081Incisor macrodontia
HP:0011968Feeding difficulties
HP:0012471Thick vermilion border
HP:0030197Fatigable weakness of skeletal muscles
HP:0030200Fatiguable weakness of proximal limb muscles
HP:0040288Nasogastric tube feeding
Периодический (5–29%)7
HP:0001284Areflexia
HP:0001308Tongue fasciculations
HP:0005060Limited elbow flexion/extension
HP:0005879Congenital finger flexion contractures
HP:0007002Motor axonal neuropathy
HP:0007269Spinal muscular atrophy
HP:0008366Foot joint contracture
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 1 | Worldwide | Family(ies) |
| 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)