Intellectual disability-seizures-macrocephaly-obesity syndrome
ORPHA:369950DiseaseNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)50
Очень частый (80–99%)33
HP:0000158Macroglossia
HP:0000256Macrocephaly
HP:0000311Round face
HP:0000316Hypertelorism
HP:0000365Hearing impairment
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000577Exotropia
HP:0000629Periorbital fullness
HP:0000646Amblyopia
HP:0000684Delayed eruption of teeth
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0000805Enuresis
HP:0000964Eczematoid dermatitis
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001269Hemiparesis
HP:0001290Generalized hypotonia
HP:0001508Failure to thrive
HP:0001513Obesity
HP:0001634Mitral valve prolapse
HP:0001716Wolff-Parkinson-White syndrome
HP:0001760Abnormal foot morphology
HP:0002019Constipation
HP:0002046Heat intolerance
HP:0002136Broad-based gait
HP:0002705High, narrow palate
HP:0006482Abnormal dental morphology
HP:0012680Abnormality of the pineal gland
HP:0100703Tongue thrusting
Периодический (5–29%)17
HP:0000160Narrow mouth
HP:0000179Thick lower lip vermilion
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000444Convex nasal ridge
HP:0000574Thick eyebrow
HP:0000718Aggressive behavior
HP:0000722Compulsive behaviors
HP:0001051Seborrheic dermatitis
HP:0001763Pes planus
HP:0002003Large forehead
HP:0002079Hypoplasia of the corpus callosum
HP:0003186Inverted nipples
HP:0004209Clinodactyly of the 5th finger
HP:0011246Underdeveloped superior crus of antihelix
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)