小头畸形-智力障碍-感音性听力障碍-癫痫-肌张力异常综合征
ORPHA:457351· ICD-10 Q02· Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
- 患病率
- <1 / 1 000 000
- 遗传方式
- Autosomal recessive
- 发病年龄
- Infancy, Neonatal
ORPHA:457351· ICD-10 Q02· Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome