Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
ORPHA:500545DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)23
Очень частый (80–99%)7
HP:0000737Irritability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0008872Feeding difficulties in infancy
HP:0008947Floppy infant
HP:0012171Stereotypical hand wringing
Частый (30–79%)5
HP:0000252Microcephaly
HP:0002187Intellectual disability, profound
HP:0002360Sleep abnormality
HP:0002521Hypsarrhythmia
HP:0010864Intellectual disability, severe
Периодический (5–29%)11
HP:0000455Broad nasal tip
HP:0001118Juvenile cataract
HP:0001257Spasticity
HP:0001371Flexion contracture
HP:0002059Cerebral atrophy
HP:0002376Developmental regression
HP:0002650Scoliosis
HP:0005949Apneic episodes in infancy
HP:0012430Cerebral white matter hypoplasia
HP:0012448Delayed myelination
HP:0040288Nasogastric tube feeding
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)