Síndrome de hipotonía-trastorno del habla-retraso cognitivo grave por deficiencia de NALCN
ORPHA:700336· ICD-10 Q87.8· Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency
- Herencia
- Autosomal recessive
ORPHA:700336· ICD-10 Q87.8· Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency