Кальцифікація мозку, тип Раджаб
ORPHA:178506· ICD-10 G93.8· Interstitial lung disease-brain calcification syndrome
Визначення(English summary)
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Adult, Childhood, Elderly