Hypotonie-Sprachstörung-schwere kognitive Entwicklungsverzögerung-Syndrom, NALCN-assoziiert
ORPHA:700336· ICD-10 Q87.8· Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency
- Vererbung
- Autosomal recessive
ORPHA:700336· ICD-10 Q87.8· Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency