Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
ORPHA:513456DiseaseAutosomal dominantInfancy
Ассоциированные гены1
Фенотипы (HPO)62
Очень частый (80–99%)7
HP:0000293Full cheeks
HP:0000687Widely spaced teeth
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0010803Everted upper lip vermilion
HP:0430028Hyperplasia of the maxilla
Частый (30–79%)19
HP:0000168Abnormality of the gingiva
HP:0000280Coarse facial features
HP:0000347Micrognathia
HP:0000463Anteverted nares
HP:0001252Hypotonia
HP:0001508Failure to thrive
HP:0002069Bilateral tonic-clonic seizure
HP:0002121Generalized non-motor (absence) seizure
HP:0005274Prominent nasal tip
HP:0005280Depressed nasal bridge
HP:0005338Sparse lateral eyebrow
HP:0007800Increased axial length of the globe
HP:0008872Feeding difficulties in infancy
HP:0010800Absent cupid's bow
HP:0011342Mild global developmental delay
HP:0011344Severe global developmental delay
HP:0025336Delayed ability to sit
HP:0031936Delayed ability to walk
HP:0410263Brain imaging abnormality
Периодический (5–29%)36
HP:0000175Cleft palate
HP:0000252Microcephaly
HP:0000403Recurrent otitis media
HP:0000486Strabismus
HP:0000540Hypermetropia
HP:0000545Myopia
HP:0000646Amblyopia
HP:0000729Autistic behavior
HP:0000733Abnormal repetitive mannerisms
HP:0001302Pachygyria
HP:0001321Cerebellar hypoplasia
HP:0001344Absent speech
HP:0001385Hip dysplasia
HP:0001629Ventricular septal defect
HP:0001761Pes cavus
HP:0001840Metatarsus adductus
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002066Gait ataxia
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002136Broad-based gait
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002779Tracheomalacia
HP:0005750Contractures of the joints of the lower limbs
HP:0006808Cerebral hypomyelination
HP:0006897Abducens palsy
HP:0008762Repetitive compulsive behavior
HP:0010740Osteopathia striata
HP:0011471Gastrostomy tube feeding in infancy
HP:0011842Abnormality of skeletal morphology
HP:0012020Right aortic arch
HP:0012172Stereotypical body rocking
HP:0012683Pineal cyst
HP:0025186Marcus Gunn jaw winking synkinesis
HP:0040115Abnormality of the Eustachian tube
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | 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)