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Pelizaeus-Merzbacher-like disease
Pathology:
- hypomyelinating leukodystrophy
Genetics:
1) autosomal recessive
2) associated with defects in GJA12 (Cx47) gene
Clinical manifestations:
1) nystagmus
2) impaired motor development
3) ataxia
4) choreoathetotic movements
5) dysarthria
6) progressive spasticity
Related
Pelizaeus-Merzbacher disease
General
genetic syndrome (multisystem disorder)
developmental disorder
Database Correlations
OMIM 608804
References
OMIM :accession 219000