CK syndrome
ORPHA:251383Malformation syndromeX-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)29
HP:0000218High palate
HP:0000252Microcephaly
HP:0000272Malar flattening
HP:0000275Narrow face
HP:0000276Long face
HP:0000286Epicanthus
HP:0000308Microretrognathia
HP:0000358Posteriorly rotated ears
HP:0000426Prominent nasal bridge
HP:0000486Strabismus
HP:0000582Upslanted palpebral fissure
HP:0000678Dental crowding
HP:0000737Irritability
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001302Pachygyria
HP:0001533Slender build
HP:0002126Polymicrogyria
HP:0002360Sleep abnormality
HP:0002381Aphasia
HP:0002538Abnormality of the cerebral cortex
HP:0002751Kyphoscoliosis
HP:0002938Lumbar hyperlordosis
HP:0007874Almond-shaped palpebral fissure
HP:0010511Long toe
HP:0025406Asthenia
HP:0100807Long fingers
Частый (30–79%)5
HP:0000708Atypical behavior
HP:0000718Aggressive behavior
HP:0000752Hyperactivity
HP:0001290Generalized hypotonia
HP:0001382Joint hypermobility
Исключён (0%)1
HP:0003107Abnormality of cholesterol metabolism
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 24 | 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)