Hypotonie - spraakstoornis - ernstige cognitieve achterstand-syndroom door NALCN-deficiëntie
ORPHA:700336· ICD-10 Q87.8· Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency
- Overerving
- Autosomal recessive
ORPHA:700336· ICD-10 Q87.8· Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency