Syndrom TBCK-vázané mentální retardace
ORPHA:488632· ICD-10 Q87.0· TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome
- Prevalence
- <1 / 1 000 000
- Dědičnost
- Autosomal recessive
- Věk nástupu
- Infancy, Neonatal
ORPHA:488632· ICD-10 Q87.0· TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome