Syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère par déficit en NALCN
ORPHA:700336· ICD-10 Q87.8· Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency
- Transmission
- Autosomal recessive
ORPHA:700336· ICD-10 Q87.8· Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency