Angelman syndrome due to paternal uniparental disomy of chromosome 15
ORPHA:98795Etiological subtypeInfancy
Ассоциированные гены1
Фенотипы (HPO)28
Частый (30–79%)14
HP:0000154Wide mouth
HP:0000687Widely spaced teeth
HP:0001010Hypopigmentation of the skin
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0002353EEG abnormality
HP:0002395Lower limb hyperreflexia
HP:0002465Poor speech
HP:0005599Hypopigmentation of hair
HP:0007730Iris hypopigmentation
HP:0010808Protruding tongue
HP:0011968Feeding difficulties
HP:0100703Tongue thrusting
Периодический (5–29%)14
HP:0000303Mandibular prognathia
HP:0002015Dysphagia
HP:0002033Poor suck
HP:0002046Heat intolerance
HP:0002069Bilateral tonic-clonic seizure
HP:0002136Broad-based gait
HP:0002141Gait imbalance
HP:0002167Abnormality of speech or vocalization
HP:0004485Cessation of head growth
HP:0005484Secondary microcephaly
HP:0007270Atypical absence seizure
HP:0008947Floppy infant
HP:0011185EEG with focal epileptiform discharges
HP:0025190Bilateral tonic-clonic seizure with generalized onset
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)