Синдром спастичної параплегії-глаукоми-інтелектуальної недостатності
ORPHA:2818· ICD-10 G11.4· Spastic paraplegia-glaucoma-intellectual disability syndrome
Визначення(English summary)
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adult