Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
ORPHA:363686DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)48
Частый (30–79%)18
HP:0000154Wide mouth
HP:0000219Thin upper lip vermilion
HP:0000273Facial grimacing
HP:0000322Short philtrum
HP:0000337Broad forehead
HP:0000455Broad nasal tip
HP:0000484Hyperopic astigmatism
HP:0000486Strabismus
HP:0000752Hyperactivity
HP:0001263Global developmental delay
HP:0002121Generalized non-motor (absence) seizure
HP:0002213Fine hair
HP:0002465Poor speech
HP:0002500Abnormal cerebral white matter morphology
HP:0008947Floppy infant
HP:0010864Intellectual disability, severe
HP:0012448Delayed myelination
HP:0100807Long fingers
Периодический (5–29%)30
HP:0000047Hypospadias
HP:0000218High palate
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000483Astigmatism
HP:0000490Deeply set eye
HP:0000582Upslanted palpebral fissure
HP:0000609Optic nerve hypoplasia
HP:0000629Periorbital fullness
HP:0000637Long palpebral fissure
HP:0000729Autistic behavior
HP:0000742Self-mutilation
HP:0000744Low frustration tolerance
HP:0000748Inappropriate laughter
HP:0001382Joint hypermobility
HP:0001511Intrauterine growth retardation
HP:0001566Widely-spaced maxillary central incisors
HP:0002007Frontal bossing
HP:0002061Lower limb spasticity
HP:0002360Sleep abnormality
HP:0002546Incomprehensible speech
HP:0005280Depressed nasal bridge
HP:0008770Obsessive-compulsive trait
HP:0009836Broad distal phalanx of finger
HP:0010511Long toe
HP:0011968Feeding difficulties
HP:0012450Chronic constipation
HP:0045025Narrow palpebral fissure
HP:0100033Tics
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)