Hypotonie - spraakstoornis - ernstige cognitieve achterstand-syndroom door UNC80-deficiëntie
ORPHA:700333· ICD-10 Q87.8· Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency
- Overerving
- Autosomal recessive
ORPHA:700333· ICD-10 Q87.8· Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency