Синдром затримки розвитку-імунодефіциту-лейкоенцефалопатії-гіпогомоцистеїнемії
ORPHA:619979· ICD-10 E72.1· Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
Визначення(English summary)
A rare syndrome with combined immunodeficiency characterized by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leukoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Infancy, Neonatal