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spastic paraplegia type-20 (Troyer syndrome)
Genetics:
1) autosomal recessive
2) associated with defects in spartin gene
Clinical manifestations:
1) see hereditary spastic paraplegia
2) dysarthria
3) distal amyotrophy
4) mild developmental delay
5) short stature
Database Correlations
OMIM 602783
MORBIDMAP 602783
References
UniProt :accession Q8N0X7