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Metadata
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/34866177/, https://pubmed.ncbi.nlm.nih.gov/34489854/
Xrefs

MIM:619735
Synonyms

spastic paraplegia 86 autosomal recessive [EXACT]

SPG86 [EXACT]
Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal recessive disease
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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