Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

ORPHA:589442· ICD-10 Q87.8

患病率: <1 / 1 000 000
遗传方式: Autosomal recessive
发病年龄: Childhood, Infancy, Neonatal

ICD-10 Q87.8 →