Christianson syndrome
ORPHA:85278Malformation syndromeX-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)49
Очень частый (80–99%)13
HP:0000275Narrow face
HP:0000276Long face
HP:0000400Macrotia
HP:0000486Strabismus
HP:0000574Thick eyebrow
HP:0001344Absent speech
HP:0002078Truncal ataxia
HP:0002187Intellectual disability, profound
HP:0002197Generalized-onset seizure
HP:0002376Developmental regression
HP:0002529Neuronal loss in central nervous system
HP:0004326Cachexia
HP:0011344Severe global developmental delay
Частый (30–79%)29
HP:0002307Drooling
HP:0002353EEG abnormality
HP:0002487Hyperkinetic movements
HP:0005484Secondary microcephaly
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008872Feeding difficulties in infancy
HP:0011968Feeding difficulties
HP:0100024Conspicuously happy disposition
HP:0000194Open mouth
HP:0000252Microcephaly
HP:0000602Ophthalmoplegia
HP:0000639Nystagmus
HP:0000717Autism
HP:0000733Abnormal repetitive mannerisms
HP:0000748Inappropriate laughter
HP:0000765Abnormal thorax morphology
HP:0000767Pectus excavatum
HP:0001181Adducted thumb
HP:0001250Seizure
HP:0001272Cerebellar atrophy
HP:0001508Failure to thrive
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002066Gait ataxia
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002194Delayed gross motor development
HP:0002300Mutism
Периодический (5–29%)7
HP:0000490Deeply set eye
HP:0000939Osteoporosis
HP:0002360Sleep abnormality
HP:0002650Scoliosis
HP:0003199Decreased muscle mass
HP:0200134Epileptic encephalopathy
HP:0001382Joint hypermobility
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.7241 | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)