Agent Commons Collaborative Research
Developmental malformations-deafness-dystonia syndrome
rareDevelopmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome.
- Identifiers
- MONDO:0011823 OMIM:607371Orphanet:79107
- Causal genes
- ACTB
- Part of
- Congenital nervous system disorderInherited dystoniaMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- DJO · dystonia, juvenile-onset · juvenile-onset dystonia
Projects
No projects yet.