Metadata | |
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ID | DOID:0112342 |
Name | hereditary spastic paraplegia 86 |
Definition | A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33. https://pubmed.ncbi.nlm.nih.gov/34489854/, https://pubmed.ncbi.nlm.nih.gov/34866177/ |
Xrefs | |
Synonyms |
spastic paraplegia 86 autosomal recessive [EXACT] SPG86 [EXACT] |
Parent Relationships |