Неонатальна адренолейкодистрофія
ORPHA:44· ICD-10 E71.3· Neonatal adrenoleukodystrophy
Визначення(English summary)
A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy, Neonatal