hereditary spastic paraplegia 89

Term ID

DOID:0070458

Synonyms

autosomal recessive spastic paraplegia 89
SPG89

Definition

A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13. https://pubmed.ncbi.nlm.nih.gov/37119330/

References

MIM:620379

Ontology

Human Disease ( DOID:0070458 )

Relationships

is a type of: autosomal recessive disease hereditary spastic paraplegia

autosomal recessive disease hereditary spastic paraplegia Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models