PEHO syndrome
ORPHA:2836DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)42
Очень частый (80–99%)27
HP:0000377Abnormal pinna morphology
HP:0000174Abnormal palate morphology
HP:0000177Abnormality of upper lip
HP:0000194Open mouth
HP:0000272Malar flattening
HP:0000286Epicanthus
HP:0000293Full cheeks
HP:0000400Macrotia
HP:0000496Abnormality of eye movement
HP:0000572Visual loss
HP:0000648Optic atrophy
HP:0001182Tapered finger
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001347Hyperreflexia
HP:0002120Cerebral cortical atrophy
HP:0002329Drowsiness
HP:0002353EEG abnormality
HP:0002521Hypsarrhythmia
HP:0003196Short nose
HP:0004422Biparietal narrowing
HP:0006829Severe muscular hypotonia
HP:0010864Intellectual disability, severe
HP:0011800Midface retrusion
HP:0011968Feeding difficulties
HP:0012469Infantile spasms
HP:0100022Abnormality of movement
Частый (30–79%)14
HP:0000212Gingival overgrowth
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0000463Anteverted nares
HP:0001272Cerebellar atrophy
HP:0001371Flexion contracture
HP:0001376Limitation of joint mobility
HP:0002119Ventriculomegaly
HP:0002132Porencephaly
HP:0002205Recurrent respiratory infections
HP:0007366Atrophy/Degeneration affecting the brainstem
HP:0010741Pedal edema
HP:0012398Peripheral edema
HP:0100540Palpebral edema
Периодический (5–29%)1
HP:0002804Arthrogryposis multiplex congenita
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)