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Hereditary spastic paraplegia 54
rareA rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.
- Identifiers
- MONDO:0014018 OMIM:615033Orphanet:320380
- Causal genes
- DDHD2
- Also known as
- autosomal recessive complex spastic paraplegia caused by mutation in DDHD2 · autosomal recessive spastic paraplegia type 54 · DDHD2 autosomal recessive complex spastic paraplegia · hereditary spastic paraplegia type 54 · spastic paraplegia 54, autosomal recessive
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