Síndrome de hipotonía-trastorno del habla-retraso cognitivo grave por deficiencia de UNC80
ORPHA:700333· ICD-10 Q87.8· Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency
- Herencia
- Autosomal recessive
ORPHA:700333· ICD-10 Q87.8· Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency