Angelman syndrome due to maternal 15q11q13 deletion
ORPHA:98794Etiological subtypeInfancy
Ассоциированные гены2
Фенотипы (HPO)50
Очень частый (80–99%)7
HP:0002353EEG abnormality
HP:0004485Cessation of head growth
HP:0005484Secondary microcephaly
HP:0011203EEG with abnormally slow frequencies
HP:0012758Neurodevelopmental delay
HP:0001250Seizure
HP:0001263Global developmental delay
Частый (30–79%)28
HP:0000154Wide mouth
HP:0000486Strabismus
HP:0000687Widely spaced teeth
HP:0000729Autistic behavior
HP:0000736Short attention span
HP:0000748Inappropriate laughter
HP:0000752Hyperactivity
HP:0001010Hypopigmentation of the skin
HP:0001513Obesity
HP:0002019Constipation
HP:0002033Poor suck
HP:0002079Hypoplasia of the corpus callosum
HP:0002167Abnormality of speech or vocalization
HP:0002307Drooling
HP:0002395Lower limb hyperreflexia
HP:0002650Scoliosis
HP:0004302Functional motor deficit
HP:0005469Flat occiput
HP:0005599Hypopigmentation of hair
HP:0007730Iris hypopigmentation
HP:0008947Floppy infant
HP:0010808Protruding tongue
HP:0010864Intellectual disability, severe
HP:0011968Feeding difficulties
HP:0012448Delayed myelination
HP:0040082Happy demeanor
HP:0100703Tongue thrusting
HP:0100738Abnormal eating behavior
Периодический (5–29%)15
HP:0000303Mandibular prognathia
HP:0001251Ataxia
HP:0001336Myoclonus
HP:0001337Tremor
HP:0001344Absent speech
HP:0002015Dysphagia
HP:0002046Heat intolerance
HP:0002136Broad-based gait
HP:0002141Gait imbalance
HP:0002465Poor speech
HP:0010505Limitation of movement at ankles
HP:0033063Shortened sleep cycle
HP:0040196Mild microcephaly
HP:0100022Abnormality of movement
HP:0100023Recurrent hand flapping
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)