CEDNIK syndrome
ORPHA:66631DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)11
HP:0000252Microcephaly
HP:0000276Long face
HP:0000316Hypertelorism
HP:0000426Prominent nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0002421Poor head control
HP:0007447Diffuse palmoplantar kyperkeratosis
HP:0008064Ichthyosis
Частый (30–79%)8
HP:0000496Abnormality of eye movement
HP:0000648Optic atrophy
HP:0001273Abnormal corpus callosum morphology
HP:0001284Areflexia
HP:0001302Pachygyria
HP:0002126Polymicrogyria
HP:0003134Abnormality of peripheral nerve conduction
HP:0009830Peripheral neuropathy
Периодический (5–29%)14
HP:0000093Proteinuria
HP:0000100Nephrotic syndrome
HP:0000135Hypogonadism
HP:0000164Abnormality of the dentition
HP:0000268Dolichocephaly
HP:0000400Macrotia
HP:0000407Sensorineural hearing impairment
HP:0000457Depressed nasal ridge
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0001250Seizure
HP:0001297Stroke
HP:0001635Congestive heart failure
HP:0004322Short stature
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 13 | 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)