X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
ORPHA:480907Malformation syndromeX-linked recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)45
Очень частый (80–99%)13
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001290Generalized hypotonia
HP:0001999Abnormal facial shape
HP:0002079Hypoplasia of the corpus callosum
HP:0002194Delayed gross motor development
HP:0006863Severe expressive language delay
HP:0008468Abnormal sacral segmentation
HP:0008472Prominent protruding coccyx
HP:0008897Postnatal growth retardation
Частый (30–79%)14
HP:0000218High palate
HP:0000276Long face
HP:0000307Pointed chin
HP:0000336Prominent supraorbital ridges
HP:0000343Long philtrum
HP:0000365Hearing impairment
HP:0000389Chronic otitis media
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000729Autistic behavior
HP:0001382Joint hypermobility
HP:0002342Intellectual disability, moderate
HP:0200136Oral-pharyngeal dysphagia
Периодический (5–29%)18
HP:0000219Thin upper lip vermilion
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000414Bulbous nose
HP:0000455Broad nasal tip
HP:0000490Deeply set eye
HP:0000527Long eyelashes
HP:0000574Thick eyebrow
HP:0000664Synophrys
HP:0001250Seizure
HP:0001264Spastic diplegia
HP:0001332Dystonia
HP:0001337Tremor
HP:0001513Obesity
HP:0002395Lower limb hyperreflexia
HP:0005280Depressed nasal bridge
HP:0012032Lipoma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 14 | 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)