Metadata | |
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ID | DOID:0112343 |
Name | hereditary spastic paraplegia 82 |
Definition | A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3. https://pubmed.ncbi.nlm.nih.gov/31637422/ |
Xrefs | |
Synonyms |
spastic paraplegia 82 autosomal recessive [EXACT] SPG82 [EXACT] |
Parent Relationships |