Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
ORPHA:477673DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)22
Частый (30–79%)15
HP:0000252Microcephaly
HP:0000369Low-set ears
HP:0000601Hypotelorism
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001258Spastic paraplegia
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0001347Hyperreflexia
HP:0002136Broad-based gait
HP:0002307Drooling
HP:0003487Babinski sign
HP:0006829Severe muscular hypotonia
HP:0011470Nasogastric tube feeding in infancy
Периодический (5–29%)7
HP:0000341Narrow forehead
HP:0001250Seizure
HP:0001337Tremor
HP:0001508Failure to thrive
HP:0002079Hypoplasia of the corpus callosum
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0011400Abnormal CNS myelination
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 17 | 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)