Hypotonie-Sprachstörung-schwere kognitive Entwicklungsverzögerung-Syndrom, UNC80-assoziiert
ORPHA:700333· ICD-10 Q87.8· Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency
- Vererbung
- Autosomal recessive
ORPHA:700333· ICD-10 Q87.8· Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency