Syndrome d'hypotonie-troubles du langage sévères-retard cognitif sévère par déficit en UNC80
ORPHA:700333· ICD-10 Q87.8· Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency
- Transmission
- Autosomal recessive
ORPHA:700333· ICD-10 Q87.8· Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency