Х-зчеплений нейродегенеративний синдром, тип Гамеля
ORPHA:85336· ICD-10 G31.8· X-linked neurodegenerative syndrome, Hamel type
Визначення(English summary)
An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death.
- Поширеність
- <1 / 1 000 000
- Успадкування
- X-linked recessive
- Вік початку
- Infancy, Neonatal