4H лейкодистрофія
ORPHA:289494· ICD-10 G37.8· 4H leukodystrophy
Визначення(English summary)
A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.
- Поширеність
- Unknown
- Вік початку
- Adolescent, Adult, Childhood, Infancy