Metadata | |
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ID | DOID:0070460 |
Name | hereditary spastic paraplegia 90B |
Definition | A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1. https://pubmed.ncbi.nlm.nih.gov/36718090/ |
Xrefs | |
Synonyms |
autosomal recessive spastic paraplegia 90B [EXACT] SPG90B [EXACT] |
Parent Relationships |