TBCK -ilişkili zihinsel yetersizlik sendromu
ORPHA:488632· ICD-10 Q87.0· TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome
- Yaygınlık
- <1 / 1 000 000
- Kalıtım
- Autosomal recessive
- Başlangıç yaşı
- Infancy, Neonatal
ORPHA:488632· ICD-10 Q87.0· TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome